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Gene: Fkbp4 MGI:95543

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Gene Summary

Name:
FK506 binding protein 4
Synonyms:
FKBP52,  FKBP-52

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
prolonged RR interval Fkbp4em1(IMPC)Mbp HOM Early adult 1.06×10-05
female infertility Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
male infertility Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Fkbp4em1(IMPC)Mbp HOM Early adult 7.12×10-05
enlarged lymph nodes Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
small testis Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
absent testes Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
no spontaneous movement Fkbp4em1(IMPC)Mbp HET E18.5 0.00
small seminal vesicle Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
decreased mean corpuscular volume Fkbp4em1(IMPC)Mbp HOM Early adult 1.21×10-05
enlarged spleen Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal body wall morphology Fkbp4em1(IMPC)Mbp HOM E18.5 0.00
preweaning lethality, incomplete penetrance Fkbp4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal cholesterol homeostasis Fkbp4em1(IMPC)Mbp HOM Early adult 2.47×10-06
abnormal male genitalia morphology Fkbp4em1(IMPC)Mbp HOM Early adult 2.01×10-14
decreased heart rate Fkbp4em1(IMPC)Mbp HOM Early adult 2.51×10-05
enlarged epididymis Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
cataract Fkbp4em1(IMPC)Mbp HOM Early adult 7.52×10-05
abnormal placenta morphology Fkbp4em1(IMPC)Mbp HET E18.5 0.00
no spontaneous movement Fkbp4em1(IMPC)Mbp HOM E18.5 0.00
small spleen Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
small epididymis Fkbp4em1(IMPC)Mbp HOM Early adult 0.00

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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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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Gross Morphology Embryo E18.5

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Human diseases caused by Fkbp4 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 Fkbp4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
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
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:752
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
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
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
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
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C... ORPHA:755
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Frasier Syndrome
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k... OMIM:136680
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a... OMIM:614840
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Streak ovary, Renal insufficiency, Nephro... ORPHA:347
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Primary amenorrhea OMIM:202110
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Deleted in azoospermia
Azoospermia OMIM:400003
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
15q24 recurrent microdeletion syndrome
Short stature, Hypospadias, Small for gestational age DECIPHER:66
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Elevated circulating f... OMIM:620548
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Te... OMIM:615542
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testicular size, De... ORPHA:90796
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Micropenis, Cryptorchidism ORPHA:85274
Image Syndrome
Hypogonadism, Hydronephrosis, Hypospadias, Cryptorchidism ORPHA:85173
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Renal agenesis, Cryptorchidism OMIM:219050
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Male pseudohermaphroditism, Ambigu... OMIM:250790
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Denys-Drash Syndrome
Nephropathy, Gonadal dysgenesis, Nephroblastoma, Proteinuria, Male pseudohermaphroditism, Nephrot... ORPHA:220
7P22.1 Microduplication Syndrome
Cryptorchidism, Abnormality of the kidney ORPHA:314034
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum te... ORPHA:247768
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Currarino Syndrome
Bifid scrotum, Vesicoureteral reflux, Male pseudohermaphroditism, Hypoplasia of penis, Hypospadias ORPHA:1552
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Short stature, Hypospadias ORPHA:141333
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Adrenal hyperplasia, Male pseudoherm... OMIM:201810
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Decreased fertility, Nephrolithiasis, Delayed puberty, Short stature, Hypoplasia of penis, Hyposp... ORPHA:1816
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Renal salt wasting,... ORPHA:90794
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... OMIM:617442
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Hypospadias 2, X-Linked
Penoscrotal hypospadias OMIM:300758
Hypospadias 1, X-Linked
Perineal hypospadias OMIM:300633
Hypospadias 3, Autosomal
Hypospadias OMIM:146450
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, mal... ORPHA:2075
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias, Renal dysplasia OMIM:615985
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias OMIM:264600
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Cryptorchidism ORPHA:261483
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Micropenis, Obesity OMIM:615983
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Chromosome 15Q26-Qter Deletion Syndrome
Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Short stature, Micropenis, Hy... OMIM:612626
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Intrauterine growth retardation, Increased ... ORPHA:96181
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Micropenis, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias OMIM:176305
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Intrauterine growth retardation, Decreased serum testost... OMIM:300869
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism ORPHA:250994
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism, Renal cyst, Abnormality of the kidney OMIM:615982
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Corneal opacity, Development... OMIM:618815
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Hypospadias ORPHA:1355
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Cleft palate ORPHA:261204
Mccune-Albright Syndrome
Renal phosphate wasting, Precocious puberty, Irregular menstruation, Increased circulating cortis... ORPHA:562
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligozoospermia OMIM:615703
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Hypoplasia ... OMIM:275400
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Micropenis, Decreased serum... OMIM:614962
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Hypospadias ORPHA:2261
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:610628
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Rabson-Mendenhall Syndrome
Precocious puberty, Increased circulating androgen concentration, Clitoral hypertrophy, Long peni... ORPHA:769
Anus, Imperforate
Ectopic anus, Anal atresia, Hypospadias OMIM:301800
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Abnormal testis morphology ORPHA:1548
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Microphallus, Postnatal growth retardation, Intrauterine growth retardation, Abnor... ORPHA:397590
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Cryptorchidism, Hypogonadism ORPHA:3363
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis OMIM:612702
Abruzzo-Erickson Syndrome
Short stature, Hypospadias, Cleft palate OMIM:302905
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis, Hypospadias ORPHA:2282
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism ORPHA:1381
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, U... ORPHA:320391
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619310
Mosaic Trisomy 14
Failure to thrive, Cryptorchidism, Ectopic anus, High palate, Hypoplasia of penis, Hypospadias, C... ORPHA:1703
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... ORPHA:847
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Polymicrogyria, Hypogonadism, Decreased testicular size, Cryptorchidism, Micropenis, Hypospadias,... OMIM:300354
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Increased circul... OMIM:158330
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Intellectual Disability, Wolff Type
Hypospadias, Cryptorchidism ORPHA:3080
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Intrauterine... OMIM:614732
Trisomy 4P
Hypospadias, Cryptorchidism ORPHA:1738
Chondrodysplasia-Difference Of Sex Development Syndrome
Male pseudohermaphroditism ORPHA:1422
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Non-Syndromic Posterior Hypospadias
Small for gestational age, Urethral diverticulum, Bifid scrotum, Androgen insufficiency, Cryptorc... ORPHA:95706
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Neonatal deat... OMIM:300219
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Spinal Muscular Atrophy, X-Linked 2
Micropenis, Hypospadias, Cryptorchidism OMIM:301830
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Nivelon-Nivelon-Mabille Syndrome
Male pseudohermaphroditism OMIM:600092
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Otoonychoperoneal Syndrome
Hypospadias OMIM:259780
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism ORPHA:3459
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Proximal Xq28 Duplication Syndrome
Hypospadias, Cryptorchidism ORPHA:1762
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism ORPHA:3055
Young Syndrome
Azoospermia OMIM:279000
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Hypospadias, Cryptorchidism OMIM:300997
Lambert Syndrome
Hypospadias OMIM:245550
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:244200
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Insulin-resistant diabetes mellitus, Abnormal circulating leptin concentra... ORPHA:2298
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Small for gestational age, Hypospadias, Cryptorchidism OMIM:620135
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Normosmic Congenital Hypogonadotropic Hypogonadism
Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li... ORPHA:432
Spina Bifida-Hypospadias Syndrome
Hypospadias ORPHA:3176
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ... ORPHA:95496
Kennedy Disease
Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Omodysplasia 2
Uterus didelphys, Cryptorchidism, Dyspareunia, Labial hypoplasia, Micropenis, Hypospadias, Clitor... OMIM:164745
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo... OMIM:602390
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism OMIM:601794
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Renal insufficie... ORPHA:96179
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Short stature, Hypospadias, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:2508
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Phenobarbital Embryopathy
Hypospadias ORPHA:1919
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Failure to thrive OMIM:300934
Laurence-Moon Syndrome
Obesity, Renal insufficiency, Cryptorchidism, Type II diabetes mellitus, Displacement of the uret... ORPHA:2377
Lambert Syndrome
Failure to thrive in infancy, Intrauterine growth retardation, Hypospadias ORPHA:1296
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Duplication Of Urethra
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... ORPHA:237
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... OMIM:191800
Diencephalic Syndrome
Cachexia, Long penis, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
Wagr Syndrome
Obesity, Cryptorchidism, Displacement of the urethral meatus, Ambiguous genitalia, Short stature ORPHA:893
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Crandall Syndrome
Hypogonadism, Hypoplasia of penis, Abnormal testis morphology ORPHA:202
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Growth delay, R... ORPHA:139466
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Failure to thrive, Decreased testicular size, Postnatal growth retarda... OMIM:610198
Abruzzo-Erickson Syndrome
Abnormal localization of kidney, Hypospadias, Cryptorchidism, Coronal hypospadias ORPHA:921
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Bradycardia... OMIM:609286
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism OMIM:616910
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Cleft Palate-Large Ears-Small Head Syndrome
Short stature, Hypospadias, Cleft palate ORPHA:2013
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab... ORPHA:1772
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Silver-Russell Syndrome 3
Postnatal growth retardation, Decreased body weight, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:616489
Acrocallosal Syndrome
Hypospadias, Cryptorchidism ORPHA:36
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypog... OMIM:235200
Campomelic Dysplasia
Hydronephrosis, Male pseudohermaphroditism, Ambiguous genitalia ORPHA:140
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Hypogonadism, Renal insufficiency, Cryptorchidism, Testicular seminoma... ORPHA:281090
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility OMIM:229070
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Secondary amenorrhea, Hypergonadot... ORPHA:3085
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Congestive heart failure, Hypogonadism, Splenomegaly, Anemia, C... OMIM:613313
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Retinal degeneration, Bradycardia OMIM:617173
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias ORPHA:276422
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Chromosome 16Q22 Deletion Syndrome
Growth delay, Failure to thrive, Postnatal growth retardation, Cryptorchidism, High palate, Hypos... OMIM:614541
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Seckel Syndrome 2
Microglossia, Growth delay, Ectopic kidney, Short stature, Hypospadias, Small for gestational age OMIM:606744
Congenital Short Bowel Syndrome
Short stature, Intestinal malrotation, Intestinal hypoplasia, Displacement of the urethral meatus ORPHA:2301
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypospadias OMIM:179250
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Ziegler-Huang Syndrome
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... OMIM:620501
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Polymicrogyria, Bilateral cryptorchidism OMIM:300982
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Meacham Syndrome
Horseshoe kidney, Septate vagina, Neonatal death, Male pseudohermaphroditism, Stillbirth, Bicornu... OMIM:608978
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Abnormality of the ureter, Intrauterine gr... OMIM:180860
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Cryptorchidism, Renal hypoplasia/aplasia, Anterior hypopituitarism ORPHA:2863
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Increased urinary cortisol level, Female pseudohermaphroditism, Adrenal hyper... ORPHA:786
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias, Gonadal dysgenesis, male, Cleft palate OMIM:231060
Meckel Syndrome
Multicystic kidney dysplasia, Cryptorchidism, True hermaphroditism, Male pseudohermaphroditism, A... ORPHA:564
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Hypospadias, Bifid uvula, Growth delay, Intrauterine growth retardation, Cry... ORPHA:2872
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Postnatal growth retardation,... ORPHA:453533
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism OMIM:619718
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism ORPHA:2022
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Obesity, Congenital hypothyroidism, Cryptorchidism, Hypospadias,... OMIM:614613
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habi... OMIM:308750
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Premature Ovarian Failure 21
Precocious puberty in females, Streak ovary, Elevated circulating follicle stimulating hormone le... OMIM:620311
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Recurrent urinary tract inf... ORPHA:2970
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Male pseudohermaphroditism, Ambiguous genitalia,... ORPHA:2556
Acrofacial Dysostosis, Catania Type
Hypospadias, Cryptorchidism OMIM:101805
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... ORPHA:79239
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:147950
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Diphallia
Penoscrotal transposition, Bladder exstrophy, Bifid scrotum, Horseshoe kidney, Ectopic scrotum, D... ORPHA:227
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Short stature, Hypospadias, Growth delay OMIM:619759
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatic steatosis, Left ventricular hypertrophy, Bradycardia, Hepatomegaly OMIM:619048
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Nocturia ORPHA:2073
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Hypospadias OMIM:618972
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Renal agenesis, Cryptorchidism, Micropenis, Hypospadias ORPHA:171839
Renpenning Syndrome
Severe short stature, High, narrow palate, Growth delay, Decreased testicular size, Cachexia, Ana... ORPHA:3242
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Splenomegaly, Hypertriglyceridemia, Anemia, Lymphadenopathy, Ne... OMIM:603552
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:608540
15Q24 Microdeletion Syndrome
Failure to thrive, Microphallus, Decreased response to growth hormone stimulation test, Postnatal... ORPHA:94065
Premature Ovarian Failure 10
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... OMIM:612885
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Esophageal stricture, Decreased testicular size... OMIM:617053
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, Renal dyspl... OMIM:314300
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Tonne-Kalscheuer Syndrome
Micropenis, Decreased testicular size, Hypospadias, Cryptorchidism OMIM:300978
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Hypospadias OMIM:618330
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis, Ureteral duplication, Hypospadias OMIM:617516
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Aganglionic megacolon, Short stature, Pachygyria, Hypospadias, Cleft palate ORPHA:66629
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias ORPHA:2252
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Neonatal death OMIM:620265
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Seckel Syndrome 5
Abnormal cortical gyration, Clitoral hypertrophy, Cryptorchidism, Hypospadias, Simplified gyral p... OMIM:613823
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormalit... ORPHA:813
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Endometriosis, A... ORPHA:363444
Mmep Syndrome
Cryptorchidism ORPHA:3434
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... OMIM:618187
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Hypospadias, Cryptorchidism OMIM:218350
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum test... ORPHA:2959
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst... OMIM:140000
Intellectual Developmental Disorder, X-Linked 99
Hypospadias, Intrauterine growth retardation, Ectopic kidney OMIM:300919
Fetal Trimethadione Syndrome
Intrauterine growth retardation, Ambiguous genitalia, Hypospadias, High palate ORPHA:1913
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Premature ovarian ins... ORPHA:3375
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias OMIM:301045
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia, ... OMIM:300200
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Fg Syndrome 5
Hypospadias OMIM:300581
Isolated Hemihyperplasia
Cryptorchidism, Nephroblastoma ORPHA:2128
Testicular Agenesis