Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
LIM homeobox protein 9
Synonyms:
LH2B,  3110009O07Rik,  Lhx9 alpha

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lhx9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lhx9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara... OMIM:400044
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
46,Xy Sex Reversal 9
Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia, Sex reversal OMIM:616067
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... OMIM:300068
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Male hypogonadism, Hypergonadotropic... ORPHA:163976
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618187
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
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
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Male hypogonadism, Hypospadias, Hypergonadotropic hypog... ORPHA:163971
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
49,Xxxyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Abnormality of the testis ... ORPHA:261534
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... OMIM:613080
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... ORPHA:3109
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad... OMIM:620501
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Gonadoblastoma, Dysgerminoma, Sex... OMIM:613762
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
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
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
49,Xyyyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... ORPHA:99330
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess, Sex reversal OMIM:613743
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Female external genitalia in individual with 46,XY karyotype, Infertility, Hypothyroidism, Male p... OMIM:264300
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95512
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Panhypophysitis
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin... ORPHA:95513
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:609441
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Is... ORPHA:90795
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... OMIM:212840
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermi... ORPHA:1772
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... OMIM:250790
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Infertility OMIM:604931
Limb-Mammary Syndrome
Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Hypohidrosis, Bilatera... ORPHA:69085
Leopard Syndrome 1
Delayed puberty, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Cryptorchidism, Micropen... OMIM:151100
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... ORPHA:465508
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... ORPHA:280356
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Decreased testicular size, Hypogonadism, Primary amenorrhea, Micropenis OMIM:614962
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary... ORPHA:247768
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Spermatogenic Failure 17
Male infertility OMIM:617214
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Elevated circulating follicle stimulating hormone leve... ORPHA:3044
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration OMIM:201100
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Abnormal... ORPHA:2959
Serkal Syndrome
Abnormality of the adrenal glands, Abnormal penis morphology, Hypospadias, Sex reversal ORPHA:139466
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Pituitary Gigantism
Premature pubarche, Increased circulating prolactin concentration, Pituitary growth hormone cell ... ORPHA:99725
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Infertility, Micropenis ORPHA:261524
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Tapered sperm head, Oligozoospermia, Coiled spe... OMIM:618433
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Diabetes mellitus, Primary amenorrhea... OMIM:610628
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:612702
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Mccune-Albright Syndrome
Decreased fertility, Pancreatitis, Increased serum testosterone level, Abnormal testis morphology... ORPHA:562
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary growth hormone cell adenoma, Pituitary p... OMIM:102200
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
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
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... ORPHA:79085
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hypergonadotropic ... OMIM:268020
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis... ORPHA:91347
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Frasier Syndrome
Ovarian gonadoblastoma, Gonadal dysgenesis, Primary amenorrhea, Male pseudohermaphroditism OMIM:136680
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614880
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal OMIM:611812
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Clitoral hypoplasia, Elevated circulating follicle stimulating hormone level,... OMIM:618419
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ova... ORPHA:435651
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hypogonadism, Vaginal atresia OMIM:615989
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Type II diabetes mellitus, Primary amenorrhe... OMIM:604367
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Female infertility OMIM:617577
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin l... ORPHA:435660
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Polycystic ovaries, Hyperinsulinemia, Pancreatitis ORPHA:79084
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Bardet-Biedl Syndrome 6
Diabetes mellitus, External genital hypoplasia, Hypospadias, Vaginal atresia OMIM:605231
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Endocrine-Cerebroosteodysplasia
Hypospadias, Adrenal hypoplasia, Microphallus, Small scrotum, Ambiguous genitalia, Cryptorchidism... OMIM:612651
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, Oligomenorrhea, Amenorrhea... ORPHA:528
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... OMIM:146255
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Type I diabetes mellitus, Primary g... ORPHA:1227
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Male hypogonadism, Hyperinsulinemia, Decreased response to gro... ORPHA:273
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Small pituitary gland, Hypothalamic luteinizing ... ORPHA:398079
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Diabetes mellitus OMIM:608709
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Decreased testi... ORPHA:79318
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... ORPHA:251937
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Cryptorchidism, D... ORPHA:495875
Robinow Syndrome
External genital hypoplasia, Clitoral hypoplasia, Decreased serum testosterone concentration, Web... ORPHA:97360
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Maternal diabetes, Secondary amenorrhea, Oligomenorrhea, Dysmenorrhea, Primary amen... ORPHA:79083
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genitalia, female, Male pseudohermaphrod... OMIM:194080
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... ORPHA:739
Seckel Syndrome 10
Diabetes mellitus, Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated c... OMIM:617253
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasting hyperinsulinemia, P... ORPHA:769
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Camptobrachydactyly
Septate vagina ORPHA:1319
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Diabetes mellitus ORPHA:2348
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, female, Fused labia minora ORPHA:2975
Duplication Of Urethra
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy... ORPHA:237
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal salivary gland morphology, Increased serum testosterone level, Fasting... ORPHA:2298
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis OMIM:140000
Camptobrachydactyly
Septate vagina OMIM:114150
Donohue Syndrome
Clitoral hypertrophy, Hyperinsulinemia, Long penis, Precocious puberty, Ovarian cyst, Pancreatic ... OMIM:246200
Luscan-Lumish Syndrome
Polycystic ovaries, Irregular menstruation OMIM:616831
Interstitial Cystitis
Abnormal labia morphology, Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morph... ORPHA:37202
Campomelic Dysplasia
Hypospadias, Sex reversal OMIM:114290
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Peters-Plus Syndrome
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism,... OMIM:261540
Meacham Syndrome
Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho... ORPHA:3097
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal fistula, Vaginal... OMIM:236700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... ORPHA:2237
Bardet-Biedl Syndrome
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... ORPHA:110
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Vaginal atre... OMIM:209900
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, ... OMIM:615109
Renal Nutcracker Syndrome
Infertility, Dyspareunia, Vulval varicose vein, Varicocele, Dysmenorrhea ORPHA:71273
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hyperinsulinemia, Decreased serum leptin, Acute pancreatitis, Polycystic ov... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hyperinsulinemia, Decreased fertility in females, Decreased serum leptin, A... OMIM:269700
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Hyperhidrosi... OMIM:300942
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Somatomammotropinoma
Anterior hypopituitarism, Pituitary growth hormone cell adenoma, Impotence, Pituitary prolactin c... ORPHA:314769
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615108
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma OMIM:617100
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr... ORPHA:79644
Acromegaly
Anterior hypopituitarism, Long penis, Abnormality of the endocrine system, Pituitary growth hormo... ORPHA:963
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
Cowden Syndrome 1
Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, ... OMIM:158350
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Micropenis, Decreased testicular size OMIM:619321
Vipoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima... ORPHA:97282
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99413
Turner Syndrome
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99228
Monosomy X
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99226
Alg6-Cdg
Increased circulating androgen concentration, Puberty and gonadal disorders ORPHA:79320
Ppoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... ORPHA:97278
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Grfoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... ORPHA:97261
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Cryptorchidism, Urogenital sinus anomaly, Glandular hypospadias ORPHA:2473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Abnormality of the uterus, Vagin... ORPHA:1655
Somatostatinoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima... ORPHA:97283
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Meacham Syndrome
Blind vagina, Septate vagina, Bicornuate uterus, Male pseudohermaphroditism OMIM:608978
Pallister-Hall Syndrome
Hypothalamic hamartoma, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrome... ORPHA:672
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu... OMIM:129900
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina OMIM:300707
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu... OMIM:604292
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... ORPHA:99889
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia ORPHA:3301
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Glucagonoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima... ORPHA:97280
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Fused labia minora, Vaginal atresia, Hypoplastic labia majora OMIM:207410
Insulin-Like Growth Factor I Deficiency
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1 OMIM:608747
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Male sexual dysf... ORPHA:322
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Increased circulati... ORPHA:97287
Currarino Syndrome
Septate vagina, Bicornuate uterus, Rectovaginal fistula OMIM:176450
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor OMIM:175200
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Micropenis, Absent gallbladder OMIM:617925
Carney Complex, Type 1
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... OMIM:160980
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Peters Plus Syndrome
Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Congenital hypothyroidism, Cryptorchi... ORPHA:709
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Increased serum testosterone ... ORPHA:3455
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Central hypothyroidism, Streak ovary, Micropenis ORPHA:798
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Bicornuate uterus, Precocious puberty, Small... OMIM:270400
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus ORPHA:125
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperfora... OMIM:181450
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Cystic Fibrosis
Absent vas deferens, Male infertility, Exocrine pancreatic insufficiency ORPHA:586
Waardenburg Syndrome, Type 1
Aplasia of the vagina OMIM:193500
Apert Syndrome
Hyperhidrosis, Cryptorchidism, Vaginal atresia OMIM:101200
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Long penis, Hypoplasia of the thymus, Cryptorchi... OMIM:264090
Cystinosis, Nephropathic
Delayed puberty, Male infertility, Primary hypothyroidism, Hypohidrosis, Diabetes mellitus, Exocr... OMIM:219800
Microphthalmia, Syndromic 2
Hypospadias, Hypothyroidism, Septate vagina, Cryptorchidism, Adrenal insufficiency OMIM:300166
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Vaginal atresia OMIM:617088
Chand Syndrome
Hypohidrosis, Imperforate hymen ORPHA:1401
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypospadias, Hypogonadism OMIM:163950
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Primary hypothyroidism, Hypoplastic nipp... OMIM:243800
Fraser Syndrome
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... ORPHA:2052