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Gene: Gnrhr MGI:95790

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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 receptor
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Gnrhr 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 Gnrhr by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Cleft palate, Secondar... OMIM:615300
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... ORPHA:90791
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... ORPHA:99429
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair ORPHA:85274
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Müllerian Aplasia And Hyperandrogenism
Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, A... ORPHA:247768
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Frasier Syndrome
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula... ORPHA:347
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Isolated Growth Hormone Deficiency, Type Ib
Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon... OMIM:612781
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, Hypogonadotropic h... OMIM:241080
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity, Thick eyebrow OMIM:309585
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spastic Paraparesis And Deafness
Hypogonadism OMIM:312910
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus, Azoospermia, B... OMIM:601076
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia OMIM:605231
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Sparse body hair, Failure to thrive, Decreased tes... ORPHA:261483
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Decreased response t... ORPHA:157954
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... OMIM:154230
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... OMIM:305400
Hao-Fountain Syndrome
Cryptorchidism, Micropenis, Premature adrenarche OMIM:616863
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism ORPHA:1014
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Spastic Paraparesis-Deafness Syndrome
Hypogonadism ORPHA:2815
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... ORPHA:3044
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism OMIM:615982
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism ORPHA:1383
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Absence of pubertal deve... OMIM:212840
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... ORPHA:2234
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Alopecia of scalp, Hypogonadism, Decreased serum testosterone concentration, Failure to thrive, D... OMIM:201100
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... ORPHA:85282
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301033
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Spermatogenic Failure 17
Male infertility OMIM:617214
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Decreased fertility, Obesity, Low posterior hairline, Hypogonadism, Abnor... ORPHA:2233
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... ORPHA:110
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Premature ovarian... ORPHA:2959
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Bardet-Biedl Syndrome 16
Renal insufficiency, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Obe... OMIM:615993
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Invasive Mole
Menometrorrhagia ORPHA:99925
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea, Malabsorption OMIM:600705
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vag... OMIM:615989
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... ORPHA:2495
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus ORPHA:2578
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Prader-Willi Syndrome
Small scrotum, Diabetes mellitus, External genital hypoplasia, Decreased response to growth hormo... ORPHA:739
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Androgen Insensitivity Syndrome
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... OMIM:300068
Image Syndrome
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Hydronephrosis ORPHA:85173
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615269
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Proteinuria, Maturity-onset diabetes of the young, Unilateral ren... OMIM:137920
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, Obesity, Low posterior ha... ORPHA:2183
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Proteinuria, Vaginal atresia, Primary amenorrhea OMIM:191830
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... ORPHA:3363
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity OMIM:615981
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Vaginal atresia, Bifid uvula OMIM:616258
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Obesity, Type II diabetes mellitus, Dis... ORPHA:2377
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia OMIM:617914
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, Truncal obe... OMIM:209900
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Oligo... ORPHA:2795
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618187
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... OMIM:201750
Perrault Syndrome 5
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:616138
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Overgrowth, Abnormality of secondary sexu... ORPHA:649929
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity OMIM:615985
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Pyloric stenosis, Hypo... OMIM:618419
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... ORPHA:202
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, High palate, Decreased response to growth hormone stimulation test, Del... OMIM:615866
Maternal Uniparental Disomy Of Chromosome 6
Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasi... ORPHA:96181
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... ORPHA:562
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Abn... OMIM:614736
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615266
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Hypospadias, Sparse eyebrow, Cryptorchidism, Hypoplastic labia minora, Synophrys, ... ORPHA:495875
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency, Decreased serum testosterone concentration OMIM:609195
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... OMIM:300148
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, High palate, Small pituitary g... OMIM:612702
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Thick eyebrow ORPHA:3459
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1621
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity ORPHA:893
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Hypogonadism ORPHA:2528
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Cleft palate OMIM:612370
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Spinocerebellar Ataxia, Autosomal Recessive 16
Hypogonadism OMIM:615768
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Ventral shortening of foreski... ORPHA:95706
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... OMIM:608709
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Lessel-Kubisch Syndrome
Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ... ORPHA:3097
Conductive Deafness-Malformed External Ear Syndrome
High palate, Hypogonadism ORPHA:3216
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular at... OMIM:235200
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... ORPHA:398079
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... OMIM:616222
Ataxia-Telangiectasia
Hypopigmentation of hair, Diabetes mellitus, Failure to thrive, Polycystic ovaries, Premature gra... ORPHA:100
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Anteriorly placed anus, Chordee, ... OMIM:309801
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Gordon Syndrome
Cryptorchidism, High palate, Cleft palate ORPHA:376
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Hydronephrosis, Abnormality of the uterus, Abnormal ... ORPHA:1655
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Premature Ovarian Failure 12
Primary amenorrhea OMIM:616947
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Polycy... OMIM:268020
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Small fo... ORPHA:97360
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Obesity, Hypogonadism, Hydron... OMIM:615996
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia OMIM:193670
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux,... OMIM:617805
Moynahan Syndrome
Hypogonadism ORPHA:2574
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Low anterior ... ORPHA:528
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Failure to thrive, Adrenal hypoplasia, Cryptorc... ORPHA:95496
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru... OMIM:604168
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Microphthalmia, Syndromic 9
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, Bicornuate uterus, ... OMIM:601186
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Ureteral duplication, Uterus didelphys ORPHA:1756
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea OMIM:602390
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... OMIM:146255
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... OMIM:600955
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... OMIM:236700
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Cle... OMIM:244200
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Infert... ORPHA:10
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Absence of pubertal development OMIM:615267
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Decreased body weight ORPHA:1672
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of the ureter, Obesity, Hypogonadism ORPHA:3409
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding OMIM:160900
Perlman Syndrome
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Abnormal pancreas morphology, Hyperinsu... ORPHA:2849
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic k... OMIM:262190
Preeclampsia
Increased body mass index, Proteinuria, Small for gestational age, Chronic kidney disease, Polycy... ORPHA:275555
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism, Red hair, Fai... OMIM:614613
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Sparse hair, D... ORPHA:127
Trisomy 5P
Hypoplasia of penis, Obesity ORPHA:1742
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis OMIM:300982
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Delayed puberty OMIM:615270
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... OMIM:601820
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... ORPHA:281090
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Cleft palate OMIM:614838
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Intestinal malrotation, Cleft palate OMIM:615524
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Nail dystrophy OMIM:618165
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism OMIM:251240
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Impotence, Diabetes mellitus, Hypogonadism ORPHA:79230
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Synophrys, Increased body weight ORPHA:589905
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435660
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Cryptorchidism, Abnormality of th... ORPHA:2970
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Primary amenorrhea, Secondar... OMIM:603896
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Bifid uvula, Cleft palate OMIM:258320
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Obesity OMIM:615633
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... ORPHA:2237
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Cryptorchidism, Abnormality ... ORPHA:397590
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... ORPHA:813
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm ORPHA:145
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... ORPHA:398069
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Diabetic Embryopathy
Ureteral duplication, Cryptorchidism, Micropenis, Abnormal morphology of female internal genitali... ORPHA:1926
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism OMIM:616681
Hemochromatosis, Type 2B
Hypogonadism, Secondary amenorrhea OMIM:613313
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed puberty, Micropenis, Decrea... OMIM:300354
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism OMIM:608540
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias, Anal atresia ORPHA:1381
Björnstad Syndrome
Hypogonadism ORPHA:123
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch... OMIM:614732
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Cryptorchidism, Delayed puberty ORPHA:486815
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Abnormal salivary gland morphology, Nephritis, E... ORPHA:2298
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Cednik Syndrome
Nephrotic syndrome, Hypogonadism, Proteinuria ORPHA:66631
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Ectopic anus, High palate ORPHA:1703
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Septate vagina, Dis... ORPHA:237
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism OMIM:619189
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Schaaf-Yang Syndrome
Failure to thrive in infancy, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Thick eyebrow OMIM:615547
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Micropenis, Hypospadias OMIM:612626
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Abnormali... ORPHA:1173
Congenital Primary Megaureter
Abnormal penis morphology, Nephrolithiasis, Congenital megaureter, Vesicoureteral reflux, Microsc... ORPHA:617
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy ORPHA:1192
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... ORPHA:273
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Micropenis, Decreased response to growth hormone stimulation test, Ove... ORPHA:457240
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Chung-Jansen Syndrome
Cryptorchidism, Synophrys, Obesity, Thick eyebrow OMIM:617991
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... ORPHA:37202
2P21 Microdeletion Syndrome
Hypogonadism, Nephrolithiasis, Cystinuria ORPHA:163693
Mmep Syndrome
Cryptorchidism ORPHA:3434
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Cleft palate, Delayed puberty,... OMIM:147950
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia ORPHA:2141
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, High anterior hairline, Hirsutism OMIM:616831
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple, Anal atresia OMIM:619243
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Intellectual Disability, Wolff Type
Cryptorchidism, Hypospadias, Abnormal intestine morphology ORPHA:3080
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Hydroneph... OMIM:222300
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis, Renal insufficiency OMIM:613861
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age ORPHA:137634
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, High palate, H... ORPHA:3306
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, High palate, Hypogonadotropic hypogonadism, Furrowed tongue ORPHA:1387
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Cofs Syndrome
Hypogonadism ORPHA:1466
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Truncal obesity, Sparse hair, Macroorchidism, High anterior hairline ORPHA:284180
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Renal hypoplasia, Obesity, Breast aplas... ORPHA:3138
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:619737
Hand-Foot-Genital Syndrome
Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel... OMIM:140000
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Microphallus OMIM:300957
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism ORPHA:238722
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Cryptorchidism, Hydrometrocolpos, Glandular hyp... ORPHA:2473
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Joubert Syndrome 37
Cryptorchidism, Obesity, Hydronephrosis, Sparse hair, Micropenis, Decreased testicular size OMIM:619185
Camptobrachydactyly
Septate vagina ORPHA:1319
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Infertili... ORPHA:96263
Hemochromatosis, Type 3
Impotence, Hypogonadotropic hypogonadism, Amenorrhea OMIM:604250
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Alazami-Yuan Syndrome
Cryptorchidism, High palate OMIM:617126
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Micropenis ORPHA:171839
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:1027
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, High palate, Anterior hypopituitarism, Anal atresia ORPHA:2863
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Unilateral renal hypoplasia OMIM:617564
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... OMIM:616629
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias OMIM:618815
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Sex reversal, Abnormality of ... ORPHA:139466
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... OMIM:246200
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Amenorrhea OMIM:619425
Carpenter Syndrome
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia, Obesity ORPHA:65759
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Clef... OMIM:615849
Alg6-Cdg
Puberty and gonadal disorders, Macroglossia, Protein-losing enteropathy, Increased circulating an... ORPHA:79320
Lig4 Syndrome
Small for gestational age, Cryptorchidism, Low anterior hairline, Type II diabetes mellitus, Micr... OMIM:606593
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Cryptorchidism, Stage 5 chronic kidney disease, Nephrot... OMIM:617575
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, 3-Methylglutaric aciduria OMIM:250951
Non-Distal Duplication 10Q
Cryptorchidism, High palate ORPHA:1695
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Cornelia De Lange Syndrome 5
Cryptorchidism, Cleft palate, High palate, Hypogonadism, Micropenis, Decreased testicular size OMIM:300882
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Vaginal atresia, Fused labia minora OMIM:207410
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, High palate, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Coffin-Siris Syndrome 8
Cryptorchidism OMIM:618362
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, High palate OMIM:618393
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Micropenis OMIM:619180
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, High palate, Hypogonadism ORPHA:85323
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:2772
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism OMIM:618766
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370921
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Cr... ORPHA:94065
Autosomal Dominant Omodysplasia
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia ORPHA:93328
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Renal hypoplasia, ... ORPHA:464288
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... OMIM:608800
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Camptobrachydactyly
Urinary incontinence, Septate vagina OMIM:114150
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Unilateral renal agenesis, Ureteral agenes... ORPHA:411709
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Apla... OMIM:151100
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum OMIM:615597
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism ORPHA:2958
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena... OMIM:613390
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, A... ORPHA:3157
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Ring Chromosome 21 Syndrome
Azoospermia, Diabetes insipidus, Infertility, Amenorrhea ORPHA:1445
Macrocephaly/Autism Syndrome
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Coarse hair, Overgrowth OMIM:605309
Arthrogryposis, Distal, Type 1C
Cryptorchidism, High palate, Bifid uvula, Cleft palate OMIM:619110
Distal Duplication 15Q
Cryptorchidism, High palate, Abnormality of female external genitalia, Anal atresia ORPHA:1707
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Obesity OMIM:300055
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Branchial Arch Syndrome, X-Linked
Cryptorchidism, High palate, High, narrow palate OMIM:301950
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased tes... OMIM:619321
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism OMIM:302950
Galactokinase Deficiency
Increased level of galactitol in urine, Hypergonadotropic hypogonadism, Hyperinsulinemia, Prematu... ORPHA:79237
Bardet-Biedl Syndrome 3
Obesity, External genital hypoplasia, Renal hypoplasia OMIM:600151
Camurati-Engelmann Disease, Type 2
Hypogonadism, Delayed puberty OMIM:606631
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Secondar... ORPHA:79083
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Oligomenorrhea OMIM:613877
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:319332
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cryptorchidism, Micropenis ORPHA:370968
Prieto Syndrome
Cryptorchidism OMIM:309610
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormali... ORPHA:2470
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum ORPHA:2256
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Hypogonadism ORPHA:2983
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Sparse axillary hair, ... OMIM:181450
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism OMIM:619908
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis OMIM:615994
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Abnormal hair patt... ORPHA:2052
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Oligozo... ORPHA:85450
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Perianal abscess, Cryptorchidism, Micropenis OMIM:614684
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Hypoplasminogenemia
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, High, narrow palate OMIM:273390
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low posterior hairline, ... OMIM:300860
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Abnormality of the hairline OMIM:248450
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Hypogonadotropic hypogonadism, Cleft palate ORPHA:1135
Peters Plus Syndrome
Intestinal fistula, Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi... ORPHA:709
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, High palate, Cleft palate OMIM:618388
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism OMIM:604317
Abruzzo-Erickson Syndrome
Cryptorchidism, Hypospadias, Coronal hypospadias, Cleft palate ORPHA:921
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Irregular menstruation, Increased body weight, Polycystic ovaries, Renal tubular ac... ORPHA:264580
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Dis... ORPHA:3378
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney, Ab... ORPHA:887
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypogonadism, Hypoplastic nipples OMIM:273400
Fraser Syndrome 1
Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidism, Extension of hair growth on temple... OMIM:219000
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Aminoaciduria, Diabetes mellitus OMIM:249270
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Cryptorchidism, Ureterocele... ORPHA:261265
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Distal Duplication 18Q
Cryptorchidism, Hypoplasia of penis, High palate, Abnormality of female external genitalia ORPHA:1716
Ruvalcaba Syndrome
Cryptorchidism, Delayed puberty OMIM:180870
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Hematuria, Sparse hair, Abnormal morphology of female internal genitalia ORPHA:1839
Warburg Micro Syndrome 1
Cryptorchidism, External genital hypoplasia OMIM:600118
Riboflavin Transporter Deficiency
Hypogonadism, Diabetes insipidus ORPHA:97229
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries, Generalized hirsutism ORPHA:2348
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Small scrotum, Hypogonadism ORPHA:228390
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Urethral atresia, Adrenal gland agen... OMIM:273395
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis OMIM:620071
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Diabetes mellitus, Cryptorchidism OMIM:615381
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias OMIM:620135
Urofacial Syndrome 1
Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruction, Enuresis, Hydronephrosis OMIM:236730
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... OMIM:174800
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Abnormal hair pattern, Cachexia, Synophrys, Obesity, Hypogonadism, Decreased... ORPHA:85293
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neopla... ORPHA:370348
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Cryptorchidism OMIM:618786
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypoplastic female external genitalia OMIM:618577
Intellectual Developmental Disorder, Autosomal Dominant 52
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Overweight, Low a... OMIM:617796
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:618504
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Femoral-Facial Syndrome
Maternal diabetes, Cryptorchidism, Long penis, Cleft palate, Polycystic kidney dysplasia ORPHA:1988
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Chronic k... ORPHA:330015
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism OMIM:272440
Johanson-Blizzard Syndrome
Alopecia, Hypoplasia of penis, Hypospadias, Diabetes mellitus, Abnormal hair pattern, Failure to ... ORPHA:2315
Apert Syndrome
Hydronephrosis, Cryptorchidism, Vaginal atresia OMIM:101200
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Abnormality of the thyroid gland, Diabetes mellitus, Hypogonadism, Premature ovarian insufficiency OMIM:609286
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism, Delayed puberty ORPHA:90646
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... ORPHA:284339
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Decreased serum insulin-like growth factor 1 ORPHA:314389
Rin2 Syndrome
Cryptorchidism, High palate, Hypergonadotropic hypogonadism, Premature ovarian insufficiency ORPHA:217335
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormal morphology of female internal genitalia, Hypospadias, Abnormality of the... ORPHA:2311
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Highly arched eyebrow, Unilateral renal agenesis, Sparse eyebrow, C... OMIM:614527
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Maternal diabetes, Ectopic kidney, Cryptorchidism, Abn... ORPHA:3027
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Insulin-resistant diabetes mellitus, Primary ameno... ORPHA:293967
Cln3 Disease
Urinary bladder sphincter dysfunction, Increased circulating androgen concentration ORPHA:228346
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, La... OMIM:164745
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Cryptorchidism, High, narrow palate, Micropenis, Bifid uvula ORPHA:2872
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, High palate, Decreased testicular size ORPHA:85279
Richards-Rundle Syndrome
Ketonuria, Hypergonadotropic hypogonadism ORPHA:1399
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... OMIM:617100
Donnai-Barrow Syndrome
Intestinal malrotation, Bicornuate uterus, Proteinuria, Abnormality of the uterus ORPHA:2143
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Ambiguous genitalia ORPHA:452
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Synophrys, Obesity, Hypothyroidism, Generalized ... ORPHA:254346
Orofaciodigital Syndrome Type 4
Monorchism, High, narrow palate, Submucous cleft hard palate, Rectal atresia, Primary adrenal ins... ORPHA:2753
Congenital Myopathy 19
Cryptorchidism, High palate, Hydronephrosis OMIM:618578
Weaver Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3447
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Type II diabetes mellitus, Oligomenorrhea, Infertility, Type I diabetes mellitus, D... ORPHA:412057
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Hypergonadotropic hypogonadism, Cleft palate ORPHA:250999
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia ORPHA:1797
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Obesity ORPHA:412035
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia ORPHA:168816
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Renal hypoplasia, Hypoth... ORPHA:85321
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... ORPHA:189427
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Irregular menstruation, Increased body weight, Polycystic ovaries, Renal tubular ac... ORPHA:79240
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal a... ORPHA:2538
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
External genital hypoplasia, High palate, Hypogonadism, Micropenis, Decreased testicular size ORPHA:3041
Noonan Syndrome 8
Cryptorchidism, Failure to thrive, Curly hair, Large for gestational age OMIM:615355
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Urinary incontinence, Large for gestational age ORPHA:169189
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism ORPHA:1295
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age OMIM:240900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:604292
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Obesity, Proportionate tall stature, Neuroendocrine neoplasm, Thick eyebrow ORPHA:404443
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:377
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Cryptorchidism, Grade III vesicoureteral r... OMIM:619522
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Curly hair, Hypospadias, Large for gestational age ORPHA:457485
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Cleft palate ORPHA:1166
Wagro Syndrome
Decreased testicular size, Proteinuria, Hypoplastic female external genitalia, Obesity OMIM:612469
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis OMIM:619718
Distal Monosomy 7Q36
Cryptorchidism, Hypoplasia of penis, Cleft palate ORPHA:1636
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis OMIM:619471
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Hypogonadism, Micropenis, Failure to thrive ORPHA:500055
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate... ORPHA:2879
Microphthalmia, Syndromic 8
Cryptorchidism, Cleft palate OMIM:601349
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
3-Methylglutaconic Aciduria, Type V
Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Decreased te... OMIM:610198
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Tonne-Kalscheuer Syndrome
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Micropenis, Decreased testicular size OMIM:300978
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, High palate ORPHA:178148
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Generalized hirsutism ORPHA:2505
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, External genital hypoplasia ORPHA:1867
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Elevated circulating parathyroid hormone level, Hypospadias, Obesity ORPHA:439822
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Cryptorchidism OMIM:619075
Noonan Syndrome 5
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair OMIM:611553
Neurofibromatosis-Noonan Syndrome
Cryptorchidism ORPHA:638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Cryptorchidism, Micropenis OMIM:613156
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicoureteral reflux, Anteri... OMIM:617159
Lig4 Syndrome
Hypoplasia of penis, Malabsorption, Cryptorchidism, Type II diabetes mellitus, Hypothyroidism ORPHA:99812
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Cryptorchidism, Protein-losing enteropathy, Hypothyroidism OMIM:608104
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... OMIM:300707
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Hypogonadism ORPHA:178303
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland, Cleft palate ORPHA:3429
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonad... OMIM:614231
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Wt Limb-Blood Syndrome
Cryptorchidism OMIM:194350
Seckel Syndrome 5
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy OMIM:613823
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Cleft palate, Azoospermia, Hypogonadism, Infe... ORPHA:96264
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Primary amenorrhea ORPHA:3220
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:129900
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Diabetes mellitus, Hypospadias ORPHA:500159
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryp... OMIM:227650
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Hypogonadism, Hi... ORPHA:251066
Lesch-Nyhan Syndrome
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria OMIM:300322
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Esophageal stric... OMIM:617053
Smith-Kingsmore Syndrome
Cryptorchidism, Curly hair, Large for gestational age OMIM:616638
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism... OMIM:261540
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Diabetes mellitus, Tall stature, Decreased serum leptin, Decreased fertilit... OMIM:608594
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Meckel Syndrome 14
Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
German Syndrome
Ambiguous genitalia, Cryptorchidism, High palate ORPHA:2077
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Cleft pala... ORPHA:2075
Ring Chromosome 12 Syndrome
Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine leiomyoma, Hypothyroidism, Br... ORPHA:1439
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Failure to thrive, Highly arched eyebrow, Cryptorchidis... ORPHA:96147
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology ORPHA:2189
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, High palate, Horseshoe kidney, Hypoplastic male external genitalia ORPHA:502434
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Cryptorchidism, Micropenis OMIM:612447
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
Acrodysostosis
Hypogonadism, Cryptorchidism, Abnormality of female external genitalia, Irregular menstruation ORPHA:950
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hypogonadism, Type II diabetes mellitus ORPHA:79095
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Midgut malrotation, Cleft palate, Delaye... ORPHA:2326
Kleefstra Syndrome 1
Hypospadias, Cryptorchidism, Synophrys, Obesity, Micropenis OMIM:610253
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis ORPHA:2083
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp... OMIM:614083
Oculocerebrocutaneous Syndrome
Cryptorchidism, Cleft palate OMIM:164180
Mcdonough Syndrome
Cryptorchidism ORPHA:2471
Marinesco-Sjögren Syndrome
Hypogonadism, External genital hypoplasia ORPHA:559
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Hypogonadism ORPHA:2269
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... OMIM:609757
Chand Syndrome
Curly hair, Hydroureter, Imperforate hymen ORPHA:1401
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Adrenoleukodystrophy
Urinary incontinence, Primary adrenal insufficiency, Impotence, Hypogonadism, Urinary bladder sph... OMIM:300100
Silver-Russell Syndrome 3
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias OMIM:616489
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hirsuti... OMIM:269700
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis OMIM:300406
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight loss, Hematuria, Infertility... ORPHA:71273
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:228402
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias, Pyloric stenosis, Horseshoe kidney OMIM:218350
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples OMIM:616001
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism ORPHA:466926
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism OMIM:618958
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate ORPHA:314575
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... ORPHA:322
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Limb-Mammary Syndrome
Absent nipple, Cleft hard palate, Cleft palate, Primary amenorrhea, Bilateral breast hypoplasia, ... ORPHA:69085
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Cystic Echinococcosis
Abnormality of the testis size, Renal cyst, Weight loss, Ovarian cyst, Membranous nephropathy ORPHA:400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Delayed puberty OMIM:616817
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... ORPHA:96179
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Small scrotum ORPHA:1970
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty ORPHA:496790
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Con... OMIM:618336
Ochoa Syndrome
Renal insufficiency, Urinary incontinence, Cryptorchidism, Urethral obstruction, Vesicoureteral r... ORPHA:2704
Freeman-Sheldon Syndrome
Cryptorchidism ORPHA:2053
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, High palate, ... ORPHA:2510
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana... OMIM:100100
Pagod Syndrome
Multicystic kidney dysplasia, Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal... ORPHA:991
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Cleft palate OMIM:615502
Microphthalmia, Syndromic 5
Cryptorchidism, Micropenis, Cleft palate, Ectopic posterior pituitary OMIM:610125
Distal Triplication 15Q
Abnormal external genitalia, Large for gestational age, Birth length greater than 97th percentile... ORPHA:314588
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism OMIM:615419
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Rahman Syndrome
Cryptorchidism OMIM:617537
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, High palate, Hypospadias OMIM:614541
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:101800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis,... ORPHA:300298
Oeis Complex
Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... OMIM:258040
Hand-Foot-Genital Syndrome
Hypospadias, Abnormality of the urethra, Bicornuate uterus, Abnormality of the uterus, Vesicouret... ORPHA:2438
Bjornstad Syndrome
Anhidrosis, Hypogonadism OMIM:262000
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Ecto... ORPHA:99413
Mosaic Monosomy X
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Ecto... ORPHA:99228
Monosomy X
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Ecto... ORPHA:99226
Turner Syndrome
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Ecto... ORPHA:881
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mi... OMIM:300519
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, High palate, Cleft palate OMIM:600325
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias OMIM:175700
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypospadias, Hypothyroidism, Cleft palate OMIM:603736
Isolated Atp Synthase Deficiency
Hypothyroidism, 3-Methylglutaconic aciduria, Hypogonadism, Renal hypoplasia ORPHA:254913
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism OMIM:620365
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Enlarged kidney... OMIM:618280
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl... ORPHA:2250
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Qazi-Markouizos Syndrome
Cryptorchidism, High, narrow palate ORPHA:3010
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... ORPHA:2588
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:98673
Triploidy
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, Macroglos... ORPHA:3376
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Chromosome 18P Deletion Syndrome
Cryptorchidism, Gonadal dysgenesis, High palate, Micropenis, Decreased testicular size OMIM:146390
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abnormality of the ureter, Ovarian cyst, Precocious puberty with Sertol... OMIM:175200
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, High, narrow palate, Hydronephrosis, Hypogonadism, High palate, Micropenis, Decre... OMIM:612513
Chronic Mucocutaneous Candidiasis
Hematuria, Dyspareunia, Abnormal vagina morphology ORPHA:1334
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism OMIM:618484
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cryptorchidism, High palate OMIM:620316
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Diabetes mellitus, Renal insuffic... ORPHA:93111
Intellectual Developmental Disorder, Autosomal Dominant 51
Cryptorchidism, Unilateral cryptorchidism OMIM:617788
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Noonan Syndrome 4
Ureteral duplication, Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, High... OMIM:610733
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... ORPHA:276608
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Pyloric stenosis, Prima... ORPHA:912
Bresek Syndrome
Aganglionic megacolon, Cryptorchidism, Renal hypoplasia, Cleft palate, Vesicoureteral reflux, Dec... ORPHA:85284
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum ORPHA:1778
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism ORPHA:85322
Familial Afibrinogenemia
Menometrorrhagia ORPHA:98880
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Cleft palate ORPHA:1912
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bicornuate uterus, En... OMIM:608978
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Bifid uvu... ORPHA:672
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Low urinary cyclic AMP ... OMIM:603233
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Abnormality of thyroid physiology ORPHA:59
Ellis Van Creveld Syndrome
Abnormal hair quantity, Failure to thrive, Hydroureter, Hypospadias, Abnormal hair morphology, Ep... ORPHA:289
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, Hamartoma of tongue ORPHA:1338
Warburg Micro Syndrome 4
Cryptorchidism, Micropenis, Small scrotum, Decreased testicular size OMIM:615663
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Hypogonadism, Micr... OMIM:300514
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, High palate ORPHA:139471
Wolfram Syndrome 2
Diabetes mellitus, Oligomenorrhea, Primary amenorrhea OMIM:604928
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3082
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Obesity And Hypopigmentation
Red hair, Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, High palate, Hypospadias ORPHA:98791
Malakoplakia
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... ORPHA:556
Carpenter Syndrome 1
Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, Hydronephr... OMIM:201000
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Intestinal malrotation, Ectopic kidney ORPHA:401935
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Ureteropelvic junction obstruction, Small scrotum, Hypospadias, Septate vagina, Un... OMIM:270400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Werner Syndrome
Decreased fertility, Secondary amenorrhea, Ovarian neoplasm, Hypogonadism, Thyroid carcinoma, Typ... ORPHA:902
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias ORPHA:1194
Cree Mental Retardation Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate OMIM:606851
King-Denborough Syndrome
Bilateral cryptorchidism, Cryptorchidism, High palate OMIM:619542
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis, Anal atresia... OMIM:264480
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Vaginal atresia, Horseshoe kidney OMIM:617088
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Aplasia/Hypoplasia of the fallo... ORPHA:96121
Short Stature-Micrognathia Syndrome
Small scrotum, Cryptorchidism, Cleft palate, High palate, Micropenis, Penoscrotal hypospadias OMIM:617164
Tyshchenko Syndrome
Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow palate, Cleft palate, High palate OMIM:615102
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased response to grow... OMIM:146510
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Diphallia
Bifid scrotum, Ureteral duplication, Rectoperineal fistula, Hypospadias, Distal urethral duplicat... ORPHA:227
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormal eyel... ORPHA:1775
Ohdo Syndrome
Cryptorchidism, Small scrotum, Proteinuria OMIM:249620
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Cleft palate ORPHA:1252
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Supernumerary nipple OMIM:617635
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Cryptorchidism, High palate, Hypospadias OMIM:300004
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Cryptorchidism, Hypogonadism, Lacrimal gland hypoplasia OMIM:613266
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Obesity, Abdominal obesity,... OMIM:219090
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Ambiguous g... ORPHA:1300
Ruvalcaba Syndrome
Hematuria, Cryptorchidism, Delayed puberty ORPHA:3121
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism ORPHA:2701
Non-Distal Duplication 13Q
Cryptorchidism, High palate ORPHA:1702
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
8P23.1 Microdeletion Syndrome
Cryptorchidism, Hypospadias, Obesity, Weight loss ORPHA:251071
Currarino Syndrome
Neurogenic bladder, Urinary incontinence, Septate vagina, Horseshoe kidney, Bicornuate uterus, Re... OMIM:176450
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Highly arched eyebro... ORPHA:261494
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Overgrowth, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Buratti-Harel Syndrome
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pala... OMIM:619314
Sotos Syndrome
Sparse eyebrow, Cryptorchidism, Increased body weight, Overgrowth, High anterior hairline, Tall s... OMIM:117550
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism ORPHA:90322
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Micropenis, Small scrotum, Microphallus OMIM:300486
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Precocious puberty, Overgrowth, Vesicoureteral reflux, Failure to thrive ORPHA:261652
Johnson Neuroectodermal Syndrome
Hypogonadism, Cleft palate ORPHA:2316
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism, Cleft palate OMIM:300946
Ruijs-Aalfs Syndrome
Hypogonadism OMIM:616200
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati... ORPHA:93325
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating co... OMIM:615830
H Syndrome
Diabetes mellitus, Malabsorption, Azoospermia, Hypogonadism, Delayed puberty, Micropenis, Decreas... ORPHA:168569
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft palate, Primary amenorrhea, Hyp... OMIM:603457
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis ORPHA:3134
Warburg Micro Syndrome 2
Hypoplastic labia majora, Cryptorchidism, Micropenis, Small scrotum OMIM:614225
Alg9-Cdg
Villous atrophy, Ureteral hypoplasia, Hydronephrosis, Bicornuate uterus, Hypoplasia of the ovary,... ORPHA:79328
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Cryptorchidism, Congenital hypop... ORPHA:2323
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Cleft palate, Congenital megaureter,... ORPHA:261344
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Abnorma... ORPHA:3353
Adams-Oliver Syndrome 1
Alopecia, Imperforate hymen, Supernumerary nipple OMIM:100300
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Bladder diverticulum, Diabetes mellitus, Increased circulating androgen con... ORPHA:2976
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, High palate ORPHA:1145
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, 3-Methylglutaconic aciduria,... ORPHA:66634
3Mc Syndrome 3
Bifid scrotum, Cryptorchidism, Cleft palate, Horseshoe kidney, Micropenis, Penoscrotal hypospadias OMIM:248340
Werner Syndrome
Diabetes mellitus, Hypogonadism OMIM:277700
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Cleft palate, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasi... OMIM:214110
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Hydronephrosis, Rena... ORPHA:1834
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism ORPHA:88639
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias ORPHA:2115
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Multiple bladder diverticula ORPHA:2728
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Emanuel Syndrome
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Cleft palate, Ectopic anus, High pal... ORPHA:96170
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, High palate, Congenital hypothyroidism OMIM:617930
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Protein... OMIM:618183
Wolfram Syndrome
Diabetes mellitus, Dysuria, Malabsorption, Nephropathy, Gastric ulcer, Hypogonadism, Delayed pube... ORPHA:3463
Trisomy 8Q
Hypoplasia of penis, Cryptorchidism, Cleft palate, High palate, Displacement of the urethral meat... ORPHA:1752
Oculoskeletodental Syndrome
Cryptorchidism, Hypercalciuria, Macroglossia, Mucopolysacchariduria, Protein-losing enteropathy, ... OMIM:618440
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Cleft palate, Hypothyroidism ORPHA:1812
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Cle... ORPHA:2166
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hyperinsuline... ORPHA:508
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Unilateral renal hypoplasia ORPHA:2874
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... ORPHA:96191
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abnormality of the uterus, ... ORPHA:59315
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Low posterior hairline, Micropenis OMIM:617925
Johanson-Blizzard Syndrome
Sparse scalp hair, Failure to thrive, Diabetes mellitus, Hypospadias, Small for gestational age, ... OMIM:243800
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... OMIM:617466
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias, Supernumerary nipple OMIM:618109
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Cohen Syndrome
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Cryptorchidism, Low anteri... ORPHA:193
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, M... ORPHA:96092
Kabuki Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Highly arched eyebrow, Precocious ... ORPHA:2322
Noonan Syndrome 9
Cryptorchidism, Hydroureter OMIM:616559
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias, Supernumerary nipple ORPHA:217346
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Kapur-Toriello Syndrome
Intestinal malrotation, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Micropenis OMIM:244300
Waardenburg Syndrome, Type 1
White eyelashes, White eyebrow, Synophrys, Premature graying of hair, Aplasia of the vagina, Whit... OMIM:193500
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, M... OMIM:616541
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Cryptorchidism OMIM:616789
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Cryptorchidism, Laterally curved eyebrow, Adrenal insufficiency, Dec... OMIM:300166
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Nephrocalc... ORPHA:94086
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palat... OMIM:248700
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... ORPHA:2059
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Narrow ... ORPHA:96169
Mosaic Trisomy 9
Hypoplasia of penis, Intestinal malrotation, Cryptorchidism, Cleft palate, Horseshoe kidney, Hydr... ORPHA:99776
Chops Syndrome
Curly hair, Thick hair, Cryptorchidism, Synophrys, Obesity, Horseshoe kidney, Coarse hair, Long e... OMIM:616368
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate,... OMIM:235255
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Diabetes mellitus, Small for... ORPHA:125
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Rectal fistula, Cryptorchidism, Bilateral... ORPHA:49
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Cleft palate, Anal atresia ORPHA:2008
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, Micropenis, Small scrotum, High palate ORPHA:98905
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology, Hydronephrosis ORPHA:531151
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Renal hamartoma, Large for gestational age OMIM:267000
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Mi... ORPHA:1307
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Myopathy, Centronuclear, X-Linked
Cryptorchidism, High palate, Pyloric stenosis OMIM:310400
Bardet-Biedl Syndrome 9
Truncal obesity, Renal insufficiency, Irregular menstruation, Obesity OMIM:615986
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Orchitis, Epididymitis, Vaginal hydrocele, Hydrocele testis, Nep... ORPHA:2035
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney ORPHA:166035
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Bilater... ORPHA:544488
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... ORPHA:79644
Cimdag Syndrome
Cholelithiasis, Hypogonadism OMIM:619273
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Vesicoureteral reflux, Micr... OMIM:618653
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Anal stenosis, Hypospadias OMIM:601499
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Hydronephrosis, Narrow palate ORPHA:364028
Macs Syndrome
Cryptorchidism, High palate, Hypergonadotropic hypogonadism, Urethral stenosis OMIM:613075
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Cleft pa... ORPHA:2745
Waardenburg Syndrome
Intestinal obstruction, Aganglionic megacolon, Aplasia/Hypoplasia of the colon, Abnormality of th... ORPHA:3440
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Micropenis, High palate, Supernumerary nipple OMIM:618929
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Proximal tubulopathy, Hypogonadism, Adrenal insufficiency,... ORPHA:231222
Osteoglosphonic Dysplasia
Cryptorchidism ORPHA:2645
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Intestinal pseudo-obstruction ORPHA:73246
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Cleft palate, Hypogo... ORPHA:2990
Hypomandibular Faciocranial Dysostosis
Abnormal morphology of female internal genitalia ORPHA:1790
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Proximal renal tubular acidosis OMIM:615824
Toluene Embryopathy
Cryptorchidism, Hydronephrosis ORPHA:1920
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasia, Micropha... OMIM:603467
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Horseshoe kidney, Ectopic kidney OMIM:600901
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cleft soft palate, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Submuc... ORPHA:2282
Orofacial Cleft 15
Cryptorchidism, Bilateral cleft palate OMIM:616788
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Hypogonadism, Abnormality of the ureter, Bilateral cleft lip and palate ORPHA:3253
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Cryptorchidism, Submucous cleft hard palate, Horseshoe kidney, Vesicoureteral reflux... OMIM:619103
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... ORPHA:96253
Martsolf Syndrome 1
Cryptorchidism, Micropenis, High palate, Hypogonadotropic hypogonadism OMIM:212720
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Cryptorchidism, Micropenis, High palate OMIM:614969
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Horseshoe kidney, Abnormality of the clitoris, ... ORPHA:93929
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Vesicoureteral reflux, Micropenis OMIM:619951
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Anal atresia, Narrow palate ORPHA:2063
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo... ORPHA:64
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis OMIM:619847
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Micropenis, High palate, Narrow palate OMIM:619435
Seckel Syndrome 1
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy OMIM:210600
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Obesity, Type I diabetes mellitus, Moderate albuminuria, Hydronephrosis OMIM:619269
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet... ORPHA:96149
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Decreased testicul... OMIM:300998
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:85201
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis OMIM:312830
Angelman Syndrome
Delayed menarche, Fair hair, Precocious puberty in females, Obesity ORPHA:72
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Cryptorchidism, Cleft palate ORPHA:994
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus ORPHA:2736
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... ORPHA:96182
Crane-Heise Syndrome
Cryptorchidism, Hypoplasia of penis, Cleft palate ORPHA:1512
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Hypospadias, Sparse eyelashes, Failure to thrive, Sm... OMIM:264090
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Cryptorchidism, Male pseudoherma... ORPHA:847
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolithias... ORPHA:798
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasi... OMIM:194190
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Large for gestationa... OMIM:229850
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Narrow palate, Cleft palate, Anteriorly placed anus, Prominent scr... ORPHA:1555
Opitz Gbbb Syndrome
Hypospadias, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, Congenital posteri... OMIM:300000
Autosomal Recessive Omodysplasia
Cryptorchidism ORPHA:93329
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Arthrogryposis, Distal, Type 3
Cryptorchidism, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula OMIM:114300
Trisomy 18
Cryptorchidism, Abnormal morphology of female internal genitalia, Hydronephrosis, Cachexia ORPHA:3380
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia ORPHA:1848
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Rena... ORPHA:263455
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Large for gestational age, Hydrocele testis, Vesicoure... OMIM:614080
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism OMIM:610651
Flat Face-Microstomia-Ear Anomaly Syndrome
Cryptorchidism, Small scrotum, High, narrow palate ORPHA:1968
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Furrowed tongue, High palate, Cholelithiasis, Micropenis, Decreased testicular size OMIM:300534
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... ORPHA:2658
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Bifid uvula, Cleft palate, Protruding tongue OMIM:612938
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Micropenis OMIM:600460
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Cryptorchidism, Hypospadias OMIM:613026
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Failure to thrive, Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism... ORPHA:3455
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Median cleft palate, Anterior pituitary hypoplasia ORPHA:1827
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Pancreatic hyperplas... OMIM:130650
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism OMIM:608093
Cog5-Cdg
Neurogenic bladder, Urinary incontinence, Cryptorchidism, High palate, Micropenis ORPHA:263487
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Esopha... OMIM:206900
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Micropenis, Small scrotum, Hypospadias OMIM:607143
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Adrenal hypoplasia, Protruding tongue, Cryptorchidism, High, narrow palate, Macroglo... OMIM:214100
Fanconi Anemia
High palate, Abnormality of the uterus, Abnormality of the hypothalamus-pituitary axis, Hypospadi... ORPHA:84
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Failure to thrive ORPHA:3339
Baller-Gerold Syndrome
Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal fistula, High palate, Bifid ... OMIM:218600
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism OMIM:301039
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ... OMIM:219800
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Cleft palate, Renal cys... OMIM:257300
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Intestinal malrotation, Unilat... OMIM:620305
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Micropenis, Hydronephrosis, Duodenal atresia OMIM:617798
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Pancreatic cysts, Cleft palate, Horseshoe kidney, Aplasia of the uterus, Ve... OMIM:274000
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pyloric stenosis, Anterior... OMIM:619148
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Stage 5 chronic kidne... ORPHA:2044
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias ORPHA:1786
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Midgut malrotation, Cryptorchidism, Pyloric stenosis, Cleft palate, Micropenis OMIM:263750
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret... ORPHA:857
Wilson Disease
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle ORPHA:905
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Malabsorpti... OMIM:619004
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... OMIM:276820
Alagille Syndrome
Cryptorchidism, Nephrotic syndrome, Abnormality of the ureter, Delayed puberty ORPHA:52
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Ectopic kidney, Cryptorchidism,... OMIM:135900
Meier-Gorlin Syndrome 5
Cryptorchidism, Micropenis, Submucous cleft hard palate OMIM:613805
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, High palate ORPHA:3304
Hatipoglu Immunodeficiency Syndrome
Cryptorchidism, Hypospadias OMIM:620331
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Breast hypoplas... OMIM:613803
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Cryptorchidism, Intestinal malrotation, Cleft palate ORPHA:457193
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, High palate ORPHA:1131
Distal Duplication 5Q
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Hypospadias, Abnormal eyelash morphology, Epispadia... ORPHA:2556
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism, Horseshoe kidney, Ectopic kidney OMIM:227645
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle ORPHA:90308
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic labia minora, High, nar... ORPHA:2554
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased body weight ORPHA:890
Fanconi Anemia, Complementation Group P
Cryptorchidism, Pelvic kidney, Horseshoe kidney OMIM:613951
Recombinant 8 Syndrome
Small scrotum, Cryptorchidism, Cleft palate, Hypoplastic male external genitalia, Abnormality of ... ORPHA:96167
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Synophrys, Obesity, Hirsutism OMIM:616078
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Unilateral renal agenesis, Ectopic kidney, Absence of renal corticomedullary... OMIM:617641
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasi... ORPHA:264200
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:899
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low ... ORPHA:1521
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Esophageal atresia, Annular pancr... OMIM:227646
20Q11.2 Microduplication Syndrome
Bifid scrotum, Cryptorchidism, Micropenis ORPHA:363659
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Shawl scrotum ORPHA:2211
C Syndrome
Renal cortical cysts, Cryptorchidism, High palate, Clitoral hypertrophy OMIM:211750
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, High palate OMIM:619244
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hypoplastic nipples, Bifid uvula OMIM:618505
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Hydronephrosis OMIM:620327
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Horseshoe ki... ORPHA:138
Meier-Gorlin Syndrome 7
Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ... OMIM:617063
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Multicystic kidney dysplasia, Hypospadias, Cryptorc... ORPHA:1596
Meier-Gorlin Syndrome 6
Decreased response to growth hormone stimulation test, Cryptorchidism, Cleft palate, Hypoplastic ... OMIM:616835
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, High palate OMIM:602471
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Generalized hypertrichosis, Glandular hypospadias, Low posterior hai... OMIM:136140
Meier-Gorlin Syndrome 4
Cryptorchidism, Breast hypoplasia OMIM:613804
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Cleft palate, Micropenis, Diabetes insipidus OMIM:615465
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Intestinal malrotation, Cryptorchidism... ORPHA:79324
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism OMIM:224410
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, High palate ORPHA:284160
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Megacystis, Mi... ORPHA:2241
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Cryptorchidism, Cleft palate, Shawl scrotum, Breast hypoplasia OMIM:601353
White-Kernohan Syndrome
Hydroureter, Synophrys, Broad medial eyebrow, Obesity, Horseshoe kidney, Rectovaginal fistula, Ho... OMIM:619426
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Large for gestational age, Cryptorchidism, Loose anagen hair, Long... OMIM:607721
Vacterl With Hydrocephalus
Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Abnormal fallopian tube morphology... ORPHA:3412
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Ohdo Syndrome, X-Linked
Small scrotum, Hiatus hernia, Cryptorchidism, High palate, Shawl scrotum, Micropenis OMIM:300895
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Intestinal malrotation, Cryptorchidism, High palate, Anal atresia OMIM:617602
Van Maldergem Syndrome 2
Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Anteriorly placed anus, High palate... OMIM:615546
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Micropenis, High palate, Cleft palate OMIM:614230
Bloom Syndrome
Cryptorchidism, Azoospermia, Type II diabetes mellitus, Decreased fertility in females OMIM:210900
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Synophrys, Increased body weight OMIM:182290
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Low posterior hairli... OMIM:163950
Microphthalmia, Lenz Type
Cryptorchidism, Hydroureter, Hypospadias, Hydronephrosis ORPHA:568
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteriorly placed anus, Cryptorchidism, Hypospadias, Cleft palate OMIM:217980
Cockayne Syndrome Type 1
Male hypogonadism, Renal insufficiency, Proteinuria, Cryptorchidism ORPHA:90321
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... OMIM:107480
Ritscher-Schinzel Syndrome 3
Cryptorchidism OMIM:619135
Ritscher-Schinzel Syndrome 2
Cryptorchidism, High palate, Intestinal malrotation, Protruding tongue OMIM:300963
Ellis-Van Creveld Syndrome
Epispadias, Hypospadias, Cryptorchidism OMIM:225500
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glos... ORPHA:861
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Volvulus OMIM:616682
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Cryptorchidism, Obesity, Renal cys... ORPHA:1606
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Ectopic kidney, Cryptorchidism, Rectal prolapse, Narrow palate, Horsesh... OMIM:235510
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Protruding tongue, Cryptorchidism, Macroglossia, Shawl scrotum, Micropenis, Hydronep... OMIM:301040
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, High palate, Uri... OMIM:300661
Digeorge Syndrome
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased circulating parat... OMIM:188400
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Hypoplasia of penis, Alopecia, Hypospadias, Curly eyelashes, Epispadia... ORPHA:3107
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Micropenis, Cleft soft palate, Cleft palate OMIM:616331
Mosaic Trisomy 8
Cryptorchidism, Cleft palate, Hydronephrosis, High palate, Vesicoureteral reflux, Decreased testi... ORPHA:96061
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Cl... OMIM:192430
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, S... ORPHA:235
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Cryptorchidism, Urethral stenosis, Oral leukoplakia OMIM:613990
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Hiatus hernia, Malrotation of colon, Cryptorchidism, High, narrow palat... OMIM:122470
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Bilateral cryptorchidism, Hydrometrocolpos, Sparse hair, Vesicoureteral reflux... OMIM:150230
Meckel Syndrome, Type 1
External genital hypoplasia, Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Ambiguou... OMIM:249000
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... ORPHA:228123
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Cleft palate, Renal cyst, Lobulated tongue... OMIM:616300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi... ORPHA:464311
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Pelvic kidney, Hydronephrosis OMIM:613001
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Increased urinary glycerol, Adrenal insufficiency OMIM:307030
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Hypogonadism, Vesicoureter... OMIM:309580
Nablus Mask-Like Facial Syndrome
Cryptorchidism, High palate, Hypoplastic nipples, Labial hypoplasia, Micropenis OMIM:608156
3Mc Syndrome 2
Hypospadias, Cryptorchidism, Cleft palate, Horseshoe kidney, High palate OMIM:265050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias OMIM:614052
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Ileus, Hypogonadism, Microcolon ORPHA:163746
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Pyloric st... ORPHA:464306
Craniofrontonasal Syndrome
Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Unilateral breast hypoplasia, Breast hy... OMIM:304110
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Micropenis, Small scrotum, Esophagitis ORPHA:495818
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puber... ORPHA:649
Beckwith-Wiedemann Syndrome
Ureteral duplication, Adrenocortical cytomegaly, Tall stature, Large for gestational age, Cryptor... ORPHA:116
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Cleft palate OMIM:619123
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Ap... ORPHA:564
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Anteriorly placed anus, High palate, Hypogonadism, Annular pancreas OMIM:268400
Atypical Werner Syndrome
Premature ovarian insufficiency, Diabetes mellitus, Abnormal circulating leptin concentration, In... ORPHA:79474
Robinow Syndrome, Autosomal Dominant 3
Cryptorchidism, Cleft palate, Anteriorly placed anus, Clitoral hypoplasia, Vesicoureteral reflux,... OMIM:616894
Mowat-Wilson Syndrome
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C... ORPHA:2152
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Pyloric stenosis OMIM:614438
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Chordee, Supernumerary nipple OMIM:616728
Meier-Gorlin Syndrome 1
Cryptorchidism, Hypoplastic labia minora, Cleft palate, Hypoplastic labia majora, High palate, Sh... OMIM:224690
Say-Barber-Miller Syndrome
Cryptorchidism, High palate, Hypogonadism ORPHA:3132
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Pyloric stenosis, Clitoral hypoplasia, Labial hypoplasia, Annular pa... OMIM:147791
Genitopatellar Syndrome
Anal stenosis, Small scrotum, Multicystic kidney dysplasia, Enlarged labia minora, Cryptorchidism... OMIM:606170
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Abnormal morpholog... ORPHA:538
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence... ORPHA:261537
Xeroderma Pigmentosum
Cryptorchidism, Aminoaciduria, Hypogonadism, Decreased testicular size ORPHA:910
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Anal stenosis, Crossed fused renal ectopia, Intestinal malrot... OMIM:147920
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Cleft soft palate, Premature thelarche, Decreased response to growth hormone stimula... ORPHA:268261
Larsen Syndrome
Cryptorchidism, Cleft palate ORPHA:503
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anus,... OMIM:151050
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Premature ovarian insufficiency, Hypogonadism, Hypothyroidism ORPHA:221008
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Narrow palate, Pollakisuria, High palate, Shawl scrotum OMIM:227330
Noonan Syndrome
Cryptorchidism, High palate, Hypogonadotropic hypogonadism ORPHA:648
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Micropenis, High palate OMIM:619005
Laurin-Sandrow Syndrome
Cryptorchidism ORPHA:2378
Femoral-Facial Syndrome
Maternal diabetes, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Polycystic kidney dysp... OMIM:134780
Faundes-Banka Syndrome
Cryptorchidism, Cleft palate, Premature thelarche, Delayed puberty OMIM:619376
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Hydronephrosis OMIM:300712
6Q Terminal Deletion Syndrome
Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Obesity, Failure to thrive ORPHA:75857
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Sparse eyebrow, Disproportionate tall stature, Overgrowth, Micropenis,... ORPHA:457359
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hypogonadism ORPHA:3042
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Thyroid agenesis, Cryptorchidism, Submucous cleft hard pa... ORPHA:3047
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Uterus didelphys... ORPHA:93271
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Intestinal malrotation OMIM:613834
Carpenter Syndrome 2
Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Sparse eye... OMIM:614976
Barber-Say Syndrome
Absent nipple, Cryptorchidism, Hypoplastic labia minora, Velopharyngeal insufficiency, Hypoplasti... OMIM:209885
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Micropenis, Hydronephrosis ORPHA:163979
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcerative colitis, High pala... OMIM:617137
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula OMIM:618748
Roberts Syndrome
Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Clitoral hype... ORPHA:3103
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence... ORPHA:261552
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Ectopic kidney, Female pseudohermaphroditism, Shawl scrotum ORPHA:1519
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Chordee, Hypospadias, Supernumerary nipple ORPHA:477993
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Cryptorchidism, Irregular menstruation, Thymic hormone decrease... OMIM:216400
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal malrotation, Renal ins... ORPHA:199
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Dilatation of renal calices, Cleft palate OMIM:614294
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology, Hydronephrosis OMIM:236680
Native American Myopathy
Cryptorchidism, Cleft palate, High palate, Submucous cleft soft palate, Bifid uvula ORPHA:168572
Monosomy 9P
Hypospadias, Cryptorchidism, Cleft palate, High palate, Ambiguous genitalia, Ureteropelvic juncti... ORPHA:261112
Neurofaciodigitorenal Syndrome
Cryptorchidism, Unilateral renal agenesis ORPHA:2673
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Hallermann-Streiff Syndrome
Cryptorchidism, Glossoptosis, Hypothyroidism, High, narrow palate ORPHA:2108
Low Phospholipid-Associated Cholelithiasis
Overweight, Cholelithiasis, Diabetes mellitus, Obesity ORPHA:69663
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Cryptorchidism, Cleft palate, High palate, Hypoplasia of the thymus, Hydronephr... OMIM:612541
Poland Syndrome
Diabetes mellitus, Hypospadias, Cryptorchidism, Renal hypoplasia, Ureterocele, Vesicoureteral reflux ORPHA:2911
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias, Duodenal atresia OMIM:618846
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis ORPHA:3310
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Aganglionic megacolon, Hypospadias, Intestinal malrotation, ... ORPHA:567
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, Renal hyp... OMIM:607932
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Dyskeratosis Congenita, X-Linked
Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Horseshoe kidney,... OMIM:305000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hydronephrosis, Abnormal ... ORPHA:2636
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Micropenis, High palate, Supernumerary nipple OMIM:613884
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Alopecia of... OMIM:130050
Pallister-Killian Syndrome
Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Supernumerary nipple, Cryptorc... OMIM:601803
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ureterocele OMIM:616734
Charge Syndrome
External genital hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropin ... OMIM:214800
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism, High, narrow palate ORPHA:1101
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Pheochromocytoma, Delaye... ORPHA:636
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter... ORPHA:438213
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Cryptorchidism, Hypospadias, Decreased testicular size, Delayed puberty ORPHA:459070
C Syndrome
Multicystic kidney dysplasia, Female pseudohermaphroditism, Cryptorchidism, Cleft palate, Horsesh... ORPHA:1308
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Esophageal atresia, Hydron... ORPHA:506358
African Trypanosomiasis
Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of renin-ang... ORPHA:3385
Mosaic Trisomy 20
Cryptorchidism, Cleft palate, Horseshoe kidney ORPHA:1724
Orofaciodigital Syndrome Xiv
Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Cleft palate, Anterio... OMIM:615948
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Narrow palate, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, High ... OMIM:180700
Double Outlet Left Ventricle
Cryptorchidism ORPHA:3427
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Cleft palate, Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Tibial Hemimelia
Ambiguous genitalia, Cryptorchidism, Hypospadias, Cleft palate ORPHA:93322
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cleft palate, Cholelithiasis, Micropenis, ... ORPHA:83617
Schneckenbecken Dysplasia
Cryptorchidism, Cleft palate ORPHA:3144
Treacher Collins Syndrome 1
Cryptorchidism, Abnormal parotid gland morphology, Cleft soft palate, Cleft palate OMIM:154500
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Xerostomia, Renal hypoplasia, Hydronephrosis, Bicornuate uterus, Vesicoureteral r... ORPHA:2363
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Loeys-Dietz Syndrome
High palate, Bifid uvula, Uterine rupture ORPHA:60030
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, High... OMIM:259050
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism OMIM:620025
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Decreased fertility, Abnormality of the menstrual cycle ORPHA:285
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cleft palate, Horseshoe kidney, B... OMIM:268300
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Aganglionic megacolon, Supernumerary nipple, Cryptorchidism, Pyloric ... OMIM:235730
Cystic Fibrosis
Male infertility, Failure to thrive, Hypercalciuria OMIM:219700
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight ORPHA:244242
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Aganglionic megacolon, Cryptorchidism, Rectal prolapse, High, narrow pa... OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gnrhr

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gnrhr.

No publications found that use IMPC mice or data for Gnrhr.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gnrhrtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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