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Gene: Hmgb2 MGI:96157

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
high mobility group box 2
Synonyms:
Hmg2,  HMG-2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hmgb2 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 Hmgb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
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
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype OMIM:305700
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... OMIM:615542
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis ORPHA:85274
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis OMIM:264600
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
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
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis OMIM:202150
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Hao-Fountain Syndrome
Cryptorchidism, Micropenis OMIM:616863
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Polymicrogyria OMIM:300982
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:261483
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Gordon Syndrome
Cryptorchidism ORPHA:376
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Mmep Syndrome
Cryptorchidism ORPHA:3434
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1621
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia OMIM:615982
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism OMIM:250951
Isolated Glycerol Kinase Deficiency
Cryptorchidism ORPHA:408
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Simplified gyral pattern OMIM:616681
Image Syndrome
Cryptorchidism, Hypogonadism, Hypospadias ORPHA:85173
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Oliver-Mcfarlane Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth ... OMIM:275400
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism OMIM:617564
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... OMIM:610628
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto... OMIM:604317
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism OMIM:618286
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:1381
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia ORPHA:363741
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis OMIM:612702
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Cryptorchidism, Micropenis, Hypogonadism, Decreased response to growth hormone stimulation test ORPHA:3363
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size OMIM:614897
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:616030
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Micropenis, Simplified gyral pattern OMIM:619180
Mehmo Syndrome
Cryptorchidism, Hypoplasia of penis, External genital hypoplasia, Micropenis ORPHA:85282
Branchial Arch Syndrome, X-Linked
Cryptorchidism OMIM:301950
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370921
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:1027
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Retract... ORPHA:163976
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism ORPHA:1338
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Micropenis, Hypospadias OMIM:612626
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias, Simplified gyral pattern OMIM:618815
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased testicular size OMIM:300869
Alazami-Yuan Syndrome
Cryptorchidism OMIM:617126
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Coffin-Siris Syndrome 8
Cryptorchidism OMIM:618362
Non-Distal Duplication 10Q
Cryptorchidism ORPHA:1695
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis OMIM:613861
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism OMIM:618766
Fetal Akinesia Deformation Sequence 4
Cryptorchidism OMIM:618393
Congenital Myopathy 9A
Cryptorchidism OMIM:618822
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism ORPHA:2958
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism OMIM:273390
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum OMIM:615597
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma, Lissencephaly ORPHA:281090
Intellectual Disability, Wolff Type
Cryptorchidism, Hypospadias ORPHA:3080
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Abnormality of neuronal migration ORPHA:2772
Prieto Syndrome
Cryptorchidism OMIM:309610
Fetal Akinesia Deformation Sequence 2
Cryptorchidism OMIM:618388
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias OMIM:620135
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:3459
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:244200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Microphthalmia, Syndromic 8
Cryptorchidism OMIM:601349
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Micropenis, Hypoplasia of the prostate OMIM:301900
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:319332
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis OMIM:618832
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Urofacial Syndrome 1
Cryptorchidism OMIM:236730
Imagawa-Matsumoto Syndrome
Cryptorchidism, Polymicrogyria OMIM:618786
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Polycystic ovaries, Decreas... ORPHA:3085
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Autosomal Dominant Omodysplasia
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia ORPHA:93328
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism OMIM:613970
Mosaic Trisomy 14
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:1703
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Neurofibromatosis-Noonan Syndrome
Cryptorchidism ORPHA:638
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism OMIM:615633
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... OMIM:608800
Laurence-Moon Syndrome
Cryptorchidism, Hypoplasia of penis, Displacement of the urethral meatus ORPHA:2377
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, Decreased testicular size ORPHA:85279
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum OMIM:615433
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Cryptorchidism OMIM:164180
Wt Limb-Blood Syndrome
Cryptorchidism OMIM:194350
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Micropenis, Hypospadias, Decreased response to growth hormone stimulation test OMIM:614732
Arthrogryposis, Distal, Type 1C
Cryptorchidism OMIM:619110
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism ORPHA:85322
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples OMIM:616001
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Cryptorchidism, Ventral shortening of foreskin, Displacement of the urethral meatu... ORPHA:95706
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism OMIM:613730
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism OMIM:619908
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis OMIM:618504
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Micropenis, Testicular... OMIM:308700
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis OMIM:620071
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Li-Campeau Syndrome
Cryptorchidism, Micropenis OMIM:619189
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:178148
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism ORPHA:2863
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism ORPHA:314575
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Testicular atrophy OMIM:308750
Fg Syndrome 3
Cryptorchidism OMIM:300406
Abruzzo-Erickson Syndrome
Cryptorchidism, Hypospadias, Coronal hypospadias ORPHA:921
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cryptorchidism, Pachygyria, Lissencephaly OMIM:620316
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism ORPHA:466926
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Micropenis OMIM:614684
Warburg Micro Syndrome 1
Cryptorchidism, Perisylvian polymicrogyria, External genital hypoplasia OMIM:600118
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Shawl scrotum ORPHA:2256
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Hypoplasia of penis, Primary amenorrhea, Ectopic posterior pituitary ORPHA:95496
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism ORPHA:1192
Congenital Myopathy 19
Cryptorchidism OMIM:618578
X-Linked Lissencephaly With Abnormal Genitalia
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Pachygyria ORPHA:452
Rahman Syndrome
Cryptorchidism OMIM:617537
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Cryptorchidism, Micropenis OMIM:612447
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism OMIM:300946
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:147950
Temple Syndrome
Precocious puberty, Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:254516
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Hypo... OMIM:615849
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypoplastic female external genitalia OMIM:618577
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Hypogonadism ORPHA:85323
Mcdonough Syndrome
Cryptorchidism ORPHA:2471
Fanconi Anemia, Complementation Group O
Cryptorchidism, External genital hypoplasia OMIM:613390
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism OMIM:618958
Distal Duplication 15Q
Cryptorchidism, Abnormality of female external genitalia ORPHA:1707
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Decreased testicular size, External genital hypoplasia ORPHA:1867
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism OMIM:272440
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism ORPHA:1166
Ochoa Syndrome
Cryptorchidism ORPHA:2704
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:1387
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Simplified gyral pattern, Hypogonadism, Micropenis, Polymicrogyria, ... OMIM:300354
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Perlman Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormal pancreas morphology ORPHA:2849
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Intellectual Developmental Disorder, Autosomal Dominant 51
Cryptorchidism, Unilateral cryptorchidism OMIM:617788
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Cryptorchidism OMIM:614736
Freeman-Sheldon Syndrome
Cryptorchidism ORPHA:2053
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:610198
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism OMIM:615502
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism OMIM:618484
Ruvalcaba Syndrome
Cryptorchidism OMIM:180870
Qazi-Markouizos Syndrome
Cryptorchidism ORPHA:3010
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus, Abnormality of neuronal migration OMIM:300957
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism OMIM:619797
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism OMIM:615419
Bdv Syndrome
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:619326
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism ORPHA:2617
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Supernumerary nipple OMIM:617635
Carpenter Syndrome
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia ORPHA:65759
Distal Monosomy 7Q36
Cryptorchidism, Hypoplasia of penis ORPHA:1636
Seckel Syndrome 5
Hypospadias, Abnormal cortical gyration, Cryptorchidism, Simplified gyral pattern, Clitoral hyper... OMIM:613823
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Micropenis, Hypospadias ORPHA:2872
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Micropenis OMIM:613156
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism OMIM:618060
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland ORPHA:3429
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Cryptorchidism ORPHA:486815
Distal Duplication 18Q
Cryptorchidism, Hypoplasia of penis, Abnormality of female external genitalia ORPHA:1716
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:127
Prune Belly Syndrome
Cryptorchidism OMIM:100100
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Noonan Syndrome 9
Cryptorchidism OMIM:616559
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, De... ORPHA:10
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Small scrotum ORPHA:1970
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism ORPHA:3409
Tonne-Kalscheuer Syndrome
Cryptorchidism, Micropenis, Hypospadias, Decreased testicular size OMIM:300978
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Hypospadias, Female external genitalia in individual with 46,XY karyotype, ... ORPHA:90791
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism OMIM:249270
Blepharonasofacial Malformation Syndrome
Cryptorchidism ORPHA:1252
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias OMIM:218350
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism ORPHA:2701
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:228402
Silver-Russell Syndrome 3
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias OMIM:616489
German Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:2077
Temple Syndrome
Precocious puberty, Cryptorchidism, Decreased testicular size OMIM:616222
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fe... ORPHA:90796
Joubert Syndrome 37
Cryptorchidism, Micropenis, Decreased testicular size OMIM:619185
Non-Distal Duplication 13Q
Cryptorchidism ORPHA:1702
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:619761
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Hypospadias OMIM:614613
King-Denborough Syndrome
Bilateral cryptorchidism, Cryptorchidism OMIM:619542
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormality of the scrotum, Microphallus ORPHA:397590
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism ORPHA:401935
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Osteoglosphonic Dysplasia
Cryptorchidism ORPHA:2645
Stankiewicz-Isidor Syndrome
Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum ORPHA:1778
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Cryptorchidism ORPHA:531151
Rin2 Syndrome
Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism ORPHA:217335
Prune Belly Syndrome
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Decreased testicular size, Urogen... ORPHA:2970
Bresek Syndrome
Cryptorchidism, Decreased testicular size ORPHA:85284
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism ORPHA:88639
Multifocal Atrial Tachycardia
Cryptorchidism ORPHA:3282
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:2083
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, Hypospadias OMIM:614541
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Orofacial Cleft 15
Cryptorchidism OMIM:616788
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertil... ORPHA:478
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Perisylvian polymicrogyria, Micropenis, Decreased testicular size OMIM:615663
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Small scrotum, Hypogonadism ORPHA:228390
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Toluene Embryopathy
Cryptorchidism ORPHA:1920
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism OMIM:620365
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Cryptorchidism OMIM:615381
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:377
Cree Mental Retardation Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias OMIM:606851
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Hypospadias ORPHA:98791
Microphthalmia, Syndromic 5
Cryptorchidism, Micropenis, Ectopic posterior pituitary OMIM:610125
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism OMIM:616789
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Hypospadias ORPHA:1194
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Tyshchenko Syndrome
Cryptorchidism, Supernumerary nipple OMIM:615102
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3082
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Abnormality of neuronal migration ORPHA:2063
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Testicular torsion ORPHA:75496
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:250999
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Cryptorchidism, Hypospadias OMIM:300004
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism ORPHA:1912
Genitopalatocardiac Syndrome
Cryptorchidism, Male pseudohermaphroditism, Hypospadias, Gonadal dysgenesis, male ORPHA:2075
Autosomal Recessive Omodysplasia
Cryptorchidism ORPHA:93329
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Ohdo Syndrome
Cryptorchidism, Small scrotum OMIM:249620
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism ORPHA:96184
Chromosome 18P Deletion Syndrome
Gonadal dysgenesis, Cryptorchidism, Micropenis, Decreased testicular size OMIM:146390
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:398079
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Abnormality of the scrotum, Small scrotum, Hypospadias ORPHA:2505
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:77298
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Reni Syndrome
Cryptorchidism, Micropenis, Hypogonadism OMIM:617575
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypospadias OMIM:619718
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism OMIM:615824
Diabetic Embryopathy
Cryptorchidism, Micropenis, Abnormal morphology of female internal genitalia ORPHA:1926
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism ORPHA:73246
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias, Supernumerary nipple OMIM:618109
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism OMIM:301039
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism OMIM:619685
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Micropenis, Polymicrogyria OMIM:614225
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Hypogonadism ORPHA:178303
13Q12.3 Microdeletion Syndrome
Cryptorchidism ORPHA:412035
Harrod Syndrome
Cryptorchidism, Hypospadias ORPHA:2115
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism OMIM:608093
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Micropenis, Small scrotum, Microphallus OMIM:300486
Noonan Syndrome 8
Cryptorchidism OMIM:615355
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Infertility, Decre... ORPHA:96263
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hypospadias OMIM:601499
Lig4 Syndrome
Cryptorchidism, Micropenis, Amenorrhea OMIM:606593
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Periventricular nodular heterotopia OMIM:619135
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Cryptorchidism, Hypoplasia of penis ORPHA:85321
17Q12 Microdeletion Syndrome
Cryptorchidism, Pancreatic aplasia, Shawl scrotum ORPHA:261265
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Dysgyria OMIM:620327
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple ORPHA:2519
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia ORPHA:1300
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism ORPHA:139471
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism ORPHA:169189
Fetal Akinesia Deformation Sequence
Cryptorchidism ORPHA:994
Meier-Gorlin Syndrome 4
Cryptorchidism, Breast hypoplasia OMIM:613804
Bachmann-Bupp Syndrome
Cryptorchidism, Focal polymicrogyria OMIM:619075
Buratti-Harel Syndrome
Cryptorchidism, Hypospadias OMIM:619314
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism OMIM:613266
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Triploidy
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:3376
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis ORPHA:3134
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Small scrotum ORPHA:2728
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology ORPHA:2189
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Lissencephaly OMIM:612938
Walker-Warburg Syndrome
Hypoplasia of penis, Abnormal cortical gyration, Cryptorchidism, Abnormality of neuronal migratio... ORPHA:899
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Lissencephaly... ORPHA:2510
Acrodysostosis
Hypogonadism, Cryptorchidism, Irregular menstruation, Abnormality of female external genitalia ORPHA:950
Kapur-Toriello Syndrome
Cryptorchidism, Hypoplastic labia majora, Micropenis, Pachygyria, Polymicrogyria OMIM:244300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Periventricular heterotopia OMIM:618929
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Simplified gyral pattern OMIM:619244
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... ORPHA:293967
X-Linked Mandibulofacial Dysostosis
Cryptorchidism ORPHA:1131
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Leydig cell neopl... ORPHA:361
Crane-Heise Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1512
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypospadias OMIM:603736
Trisomy 8Q
Cryptorchidism, Hypoplasia of penis, Displacement of the urethral meatus ORPHA:1752
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism OMIM:224410
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias, Supernumerary nipple ORPHA:217346
Fanconi Anemia, Complementation Group P
Cryptorchidism OMIM:613951
3Mc Syndrome 3
Bifid scrotum, Cryptorchidism, Micropenis, Penoscrotal hypospadias OMIM:248340
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Ring Chromosome 12 Syndrome
Cryptorchidism, Uterine leiomyoma, Glandular hypospadias, Breast hypoplasia ORPHA:1439
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... ORPHA:813
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism ORPHA:3304
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... ORPHA:98754
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism ORPHA:1307
Lig4 Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:99812
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Micropenis, Congenital hypoparathyroidism, Decreased response to growth hormone s... OMIM:241410
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Hypogonadism ORPHA:251066
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Hypospadias, Focal polymicrogyria OMIM:619103
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Hypoplasia of penis, Anterior pituitary hypoplasia ORPHA:3157
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... ORPHA:98793
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:617159
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism OMIM:602471
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Microphallus, Shawl scrotum, Decreas... OMIM:617053
Caudal Regression Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:3027
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... ORPHA:177904
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... ORPHA:177901
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hypoplastic nipples OMIM:618505
Flat Face-Microstomia-Ear Anomaly Syndrome
Cryptorchidism, Small scrotum ORPHA:1968
Martin-Probst Syndrome
Bifid scrotum, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis OMIM:300519
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormal morphology of female internal genitalia, Hypospadias ORPHA:2311
Distal Duplication 5Q
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum OMIM:600460
Hatipoglu Immunodeficiency Syndrome
Cryptorchidism, Hypospadias OMIM:620331
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... ORPHA:398069
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias ORPHA:1786
Sanjad-Sakati Syndrome
Hypoparathyroidism, Cryptorchidism, Hypoplasia of penis, Congenital hypoparathyroidism ORPHA:2323
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Pituitary growth hormone c... ORPHA:1359
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis OMIM:312830
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism OMIM:619123
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Abnormal mo... ORPHA:887
Meier-Gorlin Syndrome 5
Cryptorchidism, Micropenis OMIM:613805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism ORPHA:2241
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia ORPHA:3301
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Breast aplasia, Abnormality of the uter... ORPHA:3138
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia ORPHA:2250
Diphallia
Bifid scrotum, Rectoperineal fistula, Hypospadias, Cryptorchidism, Epispadias, Penoscrotal transp... ORPHA:227
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma ORPHA:2874
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Male hypogonadism, Micropenis OMIM:619471
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis ORPHA:2282
Ellis-Van Creveld Syndrome
Cryptorchidism, Epispadias, Hypospadias OMIM:225500
Larsen Syndrome
Cryptorchidism ORPHA:503
Genitopatellar Syndrome
Cryptorchidism, Small scrotum, Clitoral hypertrophy ORPHA:85201
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m... ORPHA:1655
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism OMIM:613834
Postaxial Acrofacial Dysostosis
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:263750
Laurin-Sandrow Syndrome
Cryptorchidism ORPHA:2378
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus, Polymicrogyria OMIM:264480
16P13.11 Microdeletion Syndrome
Cryptorchidism, Abnormality of neuronal migration ORPHA:261236
Encephalocraniocutaneous Lipomatosis
Cryptorchidism OMIM:613001
Renal Hypoplasia, Bilateral
Cryptorchidism ORPHA:97362
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Cryptorchidism, Pachygyria, Frontal polymicrogyria OMIM:620024
Dyskeratosis Congenita, Autosomal Dominant 3
Cryptorchidism OMIM:613990
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... OMIM:603457
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test OMIM:603467
Mckusick-Kaufman Syndrome
Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Urogenital sinus anomaly ORPHA:2473
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cryptorchidism, Small scrotum, Breast hypoplasia, Shawl scrotum OMIM:601353
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Cryptorc... ORPHA:2588
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Breast hypoplas... OMIM:613803
Acrocardiofacial Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:2008
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gray matter heterotopia, Gonadal dys... OMIM:618820
Opitz Gbbb Syndrome
Cryptorchidism, Micropenis, Hypospadias OMIM:300000
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,... OMIM:137920
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Chordee, Supernumerary nipple OMIM:616728
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, External genital hypoplasia, Cryptorchidism, Simplified gyral pattern, Hypogonadism OMIM:614231
Bloom Syndrome
Cryptorchidism, Azoospermia, Decreased fertility in females OMIM:210900
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Double Outlet Left Ventricle
Cryptorchidism ORPHA:3427
Neurofaciodigitorenal Syndrome
Cryptorchidism ORPHA:2673
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia ORPHA:228123
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Thyroid hypoplasia ORPHA:2166
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Cryptorchidism, Rectoperineal fistula OMIM:618748
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism OMIM:614294
Vacterl With Hydrocephalus
Cryptorchidism, Abnormal fallopian tube morphology ORPHA:3412
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic labia minora, Hypoplast... ORPHA:2554
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism OMIM:618183
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Microp... OMIM:206900
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism ORPHA:1101
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Cryptorchidism, Labial hypertrophy ORPHA:96191
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Native American Myopathy
Cryptorchidism ORPHA:168572
Perlman Syndrome
Cryptorchidism OMIM:267000
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Hartsfield Syndrome
Cryptorchidism, Micropenis, Hypospadias, Gonadotropin deficiency OMIM:615465
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Chordee, Hypospadias, Supernumerary nipple ORPHA:477993
Glycerol Kinase Deficiency
Cryptorchidism OMIM:307030
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m... OMIM:151100
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias OMIM:618846
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Abnormal co... OMIM:610829
Schneckenbecken Dysplasia
Cryptorchidism ORPHA:3144
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Treacher Collins Syndrome 1
Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Beckwith-Wiedemann Syndrome
Cryptorchidism, Overgrowth of external genitalia, Gonadoblastoma, Pancreatic hyperplasia OMIM:130650
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:613884
Meckel Syndrome
True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male pseudohermaphro... ORPHA:564
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism OMIM:620025
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Cryptorchidism, Epispadias, Simplified gyral pattern, Micropenis, Po... OMIM:615948
Penile Agenesis
Ambiguous genitalia, Cryptorchidism, Absent penis ORPHA:49
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Tibial Hemimelia
Ambiguous genitalia, Cryptorchidism, Hypospadias ORPHA:93322
Genitopatellar Syndrome
Small scrotum, Enlarged labia minora, Periventricular heterotopia, Cryptorchidism, Labial hypopla... OMIM:606170

Histopathology

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

There is no histopathology data for Hmgb2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hmgb2.

No publications found that use IMPC mice or data for Hmgb2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hmgb2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hmgb2tm380023(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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