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Gene: Kctd13 MGI:1923739

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Gene Summary

Name:
potassium channel tetramerisation domain containing 13
Synonyms:
Pdip1,  Poldip1,  1500003N18Rik

Order Alleles

IMPC Data Collections

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.

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Kctd13 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 Kctd13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Renal agenesis, Unilateral cryptorchidism OMIM:219050
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
7P22.1 Microduplication Syndrome
Cryptorchidism, Abnormality of the kidney ORPHA:314034
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
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 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 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 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis ORPHA:85274
Gemignani Syndrome
Hypoplasia of penis, Abnormal testis morphology, Delayed puberty ORPHA:2074
Image Syndrome
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Hydronephrosis ORPHA:85173
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hao-Fountain Syndrome
Cryptorchidism, Micropenis, Premature adrenarche OMIM:616863
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Polymicrogyria OMIM:300982
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormality of the urinary system ORPHA:1621
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Idiopathic Isolated Micropenis
Ambiguous genitalia, Micropenis, Hypospadias ORPHA:95707
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Macdermot-Winter Syndrome
Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
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
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism OMIM:615982
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... OMIM:314300
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
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:261483
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:1381
Paternal Uniparental Disomy Of Chromosome X
Infertility, Micropenis, Decreased testicular size ORPHA:261524
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia OMIM:617564
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Micropenis ORPHA:85282
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... ORPHA:3363
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Isolated Hemihyperplasia
Cryptorchidism, Nephroblastoma ORPHA:2128
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... OMIM:300200
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:1027
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Gordon Syndrome
Cryptorchidism ORPHA:376
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, Hydronephrosis OMIM:618578
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370921
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, 3-Methylglutaric aciduria OMIM:250951
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis, Renal insufficiency OMIM:613861
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Micropenis, Simplified gyral pattern OMIM:619180
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Micropenis, Hypospadias OMIM:612626
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus... ORPHA:1756
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Ventral shortening of foreski... ORPHA:95706
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis OMIM:615996
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias, Simplified gyral pattern OMIM:618815
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Simplified gyral pattern OMIM:616681
Mmep Syndrome
Cryptorchidism ORPHA:3434
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Crandall Syndrome
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism ORPHA:202
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis ORPHA:2083
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... OMIM:244200
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum OMIM:615597
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Joubert Syndrome 37
Hydronephrosis, Cryptorchidism, Micropenis, Decreased testicular size OMIM:619185
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism OMIM:618286
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Type II diabetes mellitus, Displacement... ORPHA:2377
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence, Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Dec... ORPHA:320391
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:618504
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia ORPHA:363741
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto... OMIM:604317
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Micropenis, Delayed puberty, Hypoplasia of the prostate OMIM:301900
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch... OMIM:614732
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Abnormal morphology o... ORPHA:1926
Autosomal Dominant Omodysplasia
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia ORPHA:93328
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Abnormality of neuronal migration ORPHA:2772
Birk-Aharoni Syndrome
Duplicated collecting system, Cryptorchidism, Micropenis OMIM:620071
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Mosaic Trisomy 14
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:1703
Intellectual Disability, Wolff Type
Cryptorchidism, Hypospadias ORPHA:3080
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decreased fertility, Hypogo... ORPHA:2234
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias OMIM:620135
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Non-Distal Duplication 10Q
Cryptorchidism, Abnormality of the urinary system ORPHA:1695
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Lissencephaly, Test... ORPHA:281090
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum ORPHA:2256
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... OMIM:608800
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum OMIM:615433
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Cryptorchidism, Hydronephrosis ORPHA:531151
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism OMIM:619189
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples OMIM:616001
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Abruzzo-Erickson Syndrome
Cryptorchidism, Hypospadias, Coronal hypospadias, Abnormal localization of kidney ORPHA:921
Alazami-Yuan Syndrome
Cryptorchidism OMIM:617126
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test, Hydronephrosis, Unilateral... OMIM:609757
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Hydroneph... OMIM:222300
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Hypothyroid... OMIM:617575
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism OMIM:615633
Branchial Arch Syndrome, X-Linked
Cryptorchidism OMIM:301950
Coffin-Siris Syndrome 8
Cryptorchidism OMIM:618362
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C... ORPHA:2510
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism, Renal hypoplasia/aplasia ORPHA:2863
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:614838
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism OMIM:618766
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... ORPHA:887
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism ORPHA:2958
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia... ORPHA:85450
Fetal Akinesia Deformation Sequence 4
Cryptorchidism OMIM:618393
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Micropenis OMIM:614684
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy ORPHA:1192
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Long penis ORPHA:1672
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Lumbar Syndrome
Bifid scrotum, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, ... ORPHA:83628
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism OMIM:273390
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Delayed puberty, Micropenis OMIM:147950
X-Linked Lissencephaly With Abnormal Genitalia
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Pachygyria ORPHA:452
Partington Syndrome
Macroorchidism ORPHA:94083
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Cryptorchidism, Micropenis OMIM:612447
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:3459
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Prieto Syndrome
Cryptorchidism OMIM:309610
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Micropenis ORPHA:370968
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... ORPHA:90791
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Hypo... OMIM:615849
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:319332
3-Methylglutaconic Aciduria, Type V
Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Decreased te... OMIM:610198
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellitus, Renal hypoplasia/aplasia, C... ORPHA:261265
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Fetal Akinesia Deformation Sequence 2
Cryptorchidism OMIM:618388
Perlman Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia, Nephroblastoma ORPHA:2849
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vaginal atresia OMIM:615989
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Sex reversal, ... ORPHA:139466
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Congenital Myopathy 9A
Cryptorchidism OMIM:618822
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uteru... OMIM:154230
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Hydronephrosis, Dysgyria OMIM:620327
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... ORPHA:3378
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Simplified gyral pattern, Hypogonadism, Delayed puberty, Micropenis,... OMIM:300354
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Imagawa-Matsumoto Syndrome
Cryptorchidism, Polymicrogyria OMIM:618786
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism, Abnormality of the kidney ORPHA:466926
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen... ORPHA:261344
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Hashimoto thyroiditis, Renovascular hypertension, Renal tubular epi... ORPHA:49041
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism ORPHA:1338
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Cryptorchidi... OMIM:258040
Microphthalmia, Syndromic 8
Cryptorchidism OMIM:601349
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Inc... OMIM:614736
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... ORPHA:2473
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Penoscrotal Transposition
Abnormal external genitalia, Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal... ORPHA:2842
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Hydronephrosis ORPHA:364028
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Polymicrogyria, Hydronephrosis OMIM:618494
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus, Abnormality of neuronal migration OMIM:300957
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias, Horseshoe kidney OMIM:218350
Neurofibromatosis-Noonan Syndrome
Cryptorchidism ORPHA:638
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, Decreased testicular size ORPHA:85279
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter, Hypogonadism ORPHA:3409
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis ORPHA:171839
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:127
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... ORPHA:314588
Weaver Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3447
Distal Monosomy 7Q36
Cryptorchidism, Hypoplasia of penis ORPHA:1636
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Micropenis, Hypospadias ORPHA:2872
Arthrogryposis, Distal, Type 1C
Cryptorchidism OMIM:619110
Chromosome 2P16.1-P15 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Hypogonadism, Micropenis, Pachygyria, Hydronephrosis OMIM:612513
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... ORPHA:49
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... OMIM:236700
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormality of the scrotum, Microphallu... ORPHA:397590
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Distal Duplication 18Q
Cryptorchidism, Hypoplasia of penis, Abnormality of female external genitalia ORPHA:1716
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Wt Limb-Blood Syndrome
Cryptorchidism OMIM:194350
Suleiman-El-Hattab Syndrome
Cryptorchidism, Hydronephrosis OMIM:618950
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Cryptorchidism OMIM:164180
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism OMIM:619908
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Primary adrenal insufficiency, Polymic... ORPHA:912
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Micropenis OMIM:613156
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Chronic kidney disease, Oligozoosper... ORPHA:330015
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Renal hypoplasia, Hypoth... ORPHA:85321
Warburg Micro Syndrome 1
Cryptorchidism, Perisylvian polymicrogyria, External genital hypoplasia OMIM:600118
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:85201
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Cryptorchidism, Renal hypoplasia, Vesicoureteral refl... ORPHA:85284
Seckel Syndrome 5
Hypospadias, Abnormal cortical gyration, Cryptorchidism, Simplified gyral pattern, Clitoral hyper... OMIM:613823
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
8P23.1 Duplication Syndrome
Adrenal insufficiency, Hydronephrosis ORPHA:251076
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:178148
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis ORPHA:568
Tonne-Kalscheuer Syndrome
Cryptorchidism, Micropenis, Hypospadias, Decreased testicular size OMIM:300978
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, External genital hypoplasia ORPHA:1867
Femoral-Facial Syndrome
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of... ORPHA:1988
Diphallia
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista... ORPHA:227
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:228402
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology, Hydronephrosis, Abnormali... ORPHA:1655
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism ORPHA:85322
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Diabetes mellitus, Hypospadias, Congenital hypothyroidism OMIM:614613
Cornelia De Lange Syndrome 5
Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:300882
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism OMIM:272440
Distal Duplication 15Q
Cryptorchidism, Abnormality of female external genitalia ORPHA:1707
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Silver-Russell Syndrome 3
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias OMIM:616489
Currarino Syndrome
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Vesicoureteral reflux ORPHA:1552
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Micropenis, Hydronephrosis OMIM:617798
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypoplastic female external genitalia OMIM:618577
Temple Syndrome
Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo... ORPHA:254516
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... ORPHA:96179
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism OMIM:611890
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias, Abnormality of the kidney ORPHA:1194
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis, Hyd... OMIM:301056
Fg Syndrome 3
Cryptorchidism OMIM:300406
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, Ty... ORPHA:10
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cryptorchidism, Pachygyria, Lissencephaly OMIM:620316
Ritscher-Schinzel Syndrome 1
Adrenal hypoplasia, Hypospadias, Hydronephrosis, Decreased response to growth hormone stimulation... OMIM:220210
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Cryptorchidism, Hypospadias, Renal dysplasia OMIM:300004
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Aplasia/Hypoplasia of the thymus, Urethral stenosis, Hydrone... ORPHA:1727
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy... ORPHA:2075
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Small scrotum ORPHA:1970
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism ORPHA:314575
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Rahman Syndrome
Cryptorchidism OMIM:617537
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Perisylvian polymicrogyria, Micropenis, Decreased testicular size OMIM:615663
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Diabetes insipidus, Hydronephrosis, Hydroureter OMIM:598500
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Cry... ORPHA:3027
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Pelvic kidney, Hydronephrosis OMIM:613001
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis ORPHA:457193
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland, Abnormal localization of kidney ORPHA:3429
Microphthalmia, Syndromic 5
Cryptorchidism, Micropenis, Ectopic posterior pituitary OMIM:610125
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hypothyroidism, Hydrone... ORPHA:96169
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Micropenis, Hydronephrosis OMIM:235255
Mcdonough Syndrome
Cryptorchidism ORPHA:2471
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the ... ORPHA:96092
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas, Abnormali... ORPHA:2470
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis OMIM:619718
Noonan Syndrome 9
Cryptorchidism, Hydroureter OMIM:616559
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, Hypospadias OMIM:614541
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Endove Syndrome, Limb-Only Type
Hypoplastic labia majora, Vesicoureteral reflux, Hydronephrosis OMIM:619217
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:1387
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism OMIM:618958
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Rena... ORPHA:261494
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Abnormality of the ... ORPHA:847
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, Horseshoe kidney, Hypoplastic male external genitalia ORPHA:502434
Cree Mental Retardation Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias OMIM:606851
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Ectopic kidney ORPHA:401935
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum ORPHA:1778
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
3Mc Syndrome 3
Bifid scrotum, Cryptorchidism, Horseshoe kidney, Micropenis, Penoscrotal hypospadias OMIM:248340
Ruvalcaba Syndrome
Cryptorchidism, Delayed puberty OMIM:180870
Noonan Syndrome 4
Cryptorchidism, Ureteral duplication, Hydronephrosis OMIM:610733
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Abnormal vagina morphology, Abnormality of t... ORPHA:2315
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Hypogonadism ORPHA:85323
Chung-Jansen Syndrome
Cryptorchidism OMIM:617991
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias OMIM:175700
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Abnormality of the scrotum, Small scrotum, Hypospadias ORPHA:2505
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple ... ORPHA:99776
Carpenter Syndrome
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia ORPHA:65759
Freeman-Sheldon Syndrome
Cryptorchidism ORPHA:2053
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Aminoaciduria, Diabetes mellitus OMIM:249270
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Pallister-Hall Syndrome
Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Decreased... OMIM:146510
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:77298
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3082
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism ORPHA:589905
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Chromosome 18P Deletion Syndrome
Gonadal dysgenesis, Cryptorchidism, Micropenis, Decreased testicular size OMIM:146390
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism OMIM:300946
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Hypospadias ORPHA:98791
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism OMIM:618484
Sim1-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Hypogonadotropic hy... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism OMIM:615502
Intellectual Developmental Disorder, Autosomal Dominant 51
Cryptorchidism, Unilateral cryptorchidism OMIM:617788
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism OMIM:615419
Qazi-Markouizos Syndrome
Cryptorchidism ORPHA:3010
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Supernumerary nipple OMIM:617635
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Cryptorchidism, Delayed puberty ORPHA:486815
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Micropenis, Small scrotum, Microphallus OMIM:300486
Trigonocephaly 1
Long penis OMIM:190440
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Thyroid carcinoma, Penile freckling ORPHA:210548
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism ORPHA:2617
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Ohdo Syndrome
Cryptorchidism, Small scrotum, Proteinuria OMIM:249620
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Small scrotum, Proteinuria, Multiple bladder diverticula ORPHA:2728
Lesch-Nyhan Syndrome
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria OMIM:300322
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Lig4 Syndrome
Cryptorchidism, Type II diabetes mellitus, Micropenis, Hypothyroidism, Amenorrhea OMIM:606593
Mosaic Trisomy 8
Vesicoureteral reflux, Cryptorchidism, Decreased testicular size, Hydronephrosis ORPHA:96061
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mi... OMIM:300519
German Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:2077
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Hydronephrosis OMIM:611209
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... ORPHA:2059
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Schaaf-Yang Syndrome
Cryptorchidism, Micropenis, Hypogonadism OMIM:615547
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Micropenis, Polymicrogyria OMIM:614225
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ... OMIM:601186
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Cryptorchidism, Shawl scrotum, Micropenis, Hydronephrosis OMIM:301040
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis ORPHA:3134
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... ORPHA:168558
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Small scrotum, Hypogonadism ORPHA:228390
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias, Supernumerary nipple OMIM:618109
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism ORPHA:1912
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Con... OMIM:618336
48,Xxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, I... ORPHA:96263
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Renal hypoplasia, Pseudohypoparathyroidism, ... ORPHA:464288
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Temple Syndrome
Precocious puberty, Cryptorchidism, Decreased testicular size, Maturity-onset diabetes of the young OMIM:616222
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydroneph... OMIM:618653
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
49,Xxxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Small scrotum, Renal hypoplasia/aplasia, Cryptorchidism, Az... ORPHA:96264
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Triploidy
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:3376
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Takenouchi-Kosaki Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypospadias, Hypothyroidism OMIM:603736
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hypospadias OMIM:601499
Trisomy 8Q
Cryptorchidism, Hypoplasia of penis, Displacement of the urethral meatus ORPHA:1752
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Carpenter Syndrome 1
Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hydronephrosis OMIM:201000
Crane-Heise Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1512
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Septate vagina, Unil... ORPHA:2237
Blepharonasofacial Malformation Syndrome
Cryptorchidism ORPHA:1252
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Diabetes mellitus, Hypospadias, Polymicrogyria ORPHA:500159
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism ORPHA:137634
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism OMIM:600325
Gapo Syndrome
Dysmenorrhea, Nephrolithiasis, Oligozoospermia, Hypogonadism, Amenorrhea ORPHA:2067
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Cryptorchidism, Renal atrophy, Vesicoureteral reflux, Periventricular nodular hetero... OMIM:618659
3C Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Abnormality of neuronal migration, Hydronep... ORPHA:7
Short Stature-Micrognathia Syndrome
Cryptorchidism, Micropenis, Small scrotum, Penoscrotal hypospadias OMIM:617164
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Hypospadias, Focal polymicrogyria, Cryptorchidism, Horseshoe ... OMIM:619103
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Renal agenesis, Bilateral cryptorchidism, Delayed puberty, Micrope... ORPHA:2326
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... OMIM:618454
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Gray matter heterotopia, Aminoaciduria, Albuminu... OMIM:214100
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism ORPHA:2701
Squalene Synthase Deficiency
Bilateral cryptorchidism, Polymicrogyria, Hypospadias OMIM:618156
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic k... OMIM:262190
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Kapur-Toriello Syndrome
Cryptorchidism, Hypoplastic labia majora, Abnormality of the urinary system, Micropenis, Pachygyr... OMIM:244300
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydrocele test... OMIM:614080
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum OMIM:600460
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Cryptorchidism, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Insulin-resistant diabetes mellitus, Primary ameno... ORPHA:293967
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormality of neuronal migration, Renal ... ORPHA:464311
Craniofacioskeletal Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis, Absent gallbladder OMIM:300712
Lig4 Syndrome
Cryptorchidism, Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Non-Distal Duplication 13Q
Cryptorchidism ORPHA:1702
Buratti-Harel Syndrome
Cryptorchidism, Hypospadias OMIM:619314
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Nicolaides-Baraitser Syndrome
Cryptorchidism, Abnormal testis morphology ORPHA:3051
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration, Epispadias, Ab... ORPHA:2211
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Multicystic kidney dysplasia, Gray matter heterotopia, Micropenis, Hyd... OMIM:615287
Baraitser-Winter Syndrome 1
Cryptorchidism, Micropenis, Pachygyria, Lissencephaly OMIM:243310
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ... ORPHA:3097
Progressive Supranuclear Palsy
Impulsivity, Unsteady gait, Abnormal synaptic transmission, Falls, Dysphagia ORPHA:683
Fanconi Anemia, Complementation Group P
Cryptorchidism, Pelvic kidney, Horseshoe kidney OMIM:613951
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormalit... ORPHA:3157
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicoureteral reflux, Ambigu... OMIM:617159
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Absenc... OMIM:604292
King-Denborough Syndrome
Bilateral cryptorchidism, Cryptorchidism OMIM:619542
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplas... OMIM:617053
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Delayed puberty OMIM:616817
Rin2 Syndrome
Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism ORPHA:217335
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism ORPHA:88639
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia ORPHA:1300
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Osteoglosphonic Dysplasia
Cryptorchidism ORPHA:2645
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Vesicoureteral reflux, Micropenis OMIM:619951
Macrocephaly/Autism Syndrome
Hydrocele testis, Penile freckling OMIM:605309
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty ORPHA:496790
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Periventricular heterotopia OMIM:618929
15Q24 Microdeletion Syndrome
Cryptorchidism, Hypospadias, Microphallus, Decreased response to growth hormone stimulation test ORPHA:94065
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... ORPHA:813
Ring Chromosome 12 Syndrome
Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hypothyroidism, Breast hypoplasia ORPHA:1439
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias, Supernumerary nipple ORPHA:217346
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Proximal renal tubular acidosis OMIM:615824
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Polymicrogyria, Hypospadias ORPHA:457485
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Infertility, Erectile dysfu... ORPHA:465508
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Hypogonadism, Ab... ORPHA:251066
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Orofacial Cleft 15
Cryptorchidism OMIM:616788
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Diabetes mellitus, Cryptorchidism OMIM:615381
Tetraploidy
Hydronephrosis, Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia ORPHA:3305
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Hypogonadism, Hydr... ORPHA:261349
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:377
Gabriele-De Vries Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Thyroid lymphangiectasia, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux... OMIM:235510
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism ORPHA:1145
Ruvalcaba Syndrome
Hematuria, Cryptorchidism, Abnormal localization of kidney, Delayed puberty ORPHA:3121
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis OMIM:619847
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis ORPHA:163979
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Decreased fertility, Breast aplasia, Abnor... ORPHA:3138
Tyshchenko Syndrome
Cryptorchidism, Supernumerary nipple OMIM:615102
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Aarskog-Scott Syndrome
Cryptorchidism, Shawl scrotum ORPHA:915
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Mild proteinuria OMIM:619685
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydrone... ORPHA:2953
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis ORPHA:250989
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Clitoral hypertrophy OMIM:616449
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Breast hyp... ORPHA:464306
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Kleefstra Syndrome 1
Cryptorchidism, Micropenis, Abnormal renal morphology, Hypospadias OMIM:610253
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Coronal hypospadias OMIM:619859
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Cryptorchidism, Hypospadias ORPHA:494344
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, Micropenis, Small scrotum ORPHA:98905
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis OMIM:312830
Walker-Warburg Syndrome
Hypoplasia of penis, Abnormal cortical gyration, Cryptorchidism, Abnormality of neuronal migratio... ORPHA:899
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism OMIM:616789
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism, Maturity-onset diabetes of the young ORPHA:96184
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, E... OMIM:227650
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormal morphology of female internal genitalia, Hypospadias, Abnormality of the... ORPHA:2311
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism OMIM:620365
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:250999
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Absenc... OMIM:129900
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Urinary incontinence ORPHA:169189
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Abnormality of t... ORPHA:2745
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Homocystinuria, Methylmalonic aciduria OMIM:614857
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Abnormality of neuronal migration ORPHA:2063
Schuurs-Hoeijmakers Syndrome
Cryptorchidism OMIM:615009
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Testicular torsion ORPHA:75496
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasia, Micropha... OMIM:603467
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Autosomal Recessive Omodysplasia
Cryptorchidism ORPHA:93329
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, 3-Methylglutaconic aciduria,... ORPHA:66634
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Kbg Syndrome
Cryptorchidism ORPHA:2332
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Marden-Walker Syndrome
Cryptorchidism, Micropenis, Hypospadias, Renal hypoplasia OMIM:248700
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... OMIM:300707
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis ORPHA:2282
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Meier-Gorlin Syndrome 5
Cryptorchidism, Micropenis OMIM:613805
Hatipoglu Immunodeficiency Syndrome
Cryptorchidism, Hypospadias OMIM:620331
Sanjad-Sakati Syndrome
Hypoparathyroidism, Cryptorchidism, Hypoplasia of penis, Congenital hypoparathyroidism ORPHA:2323
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Cryptorchidism, Gray matter heterotopia, Vesicoureteral reflu... OMIM:610443
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, External... ORPHA:97360
Distal Duplication 5Q
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Hypogonadism ORPHA:178303
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias ORPHA:1786
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, External genital hy... ORPHA:398069
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Male hypogonadism, Micropenis, Proteinuria OMIM:619471
Pseudotrisomy 13 Syndrome
Renal agenesis, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropen... OMIM:264480
Bladder Exstrophy
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, A... ORPHA:93930
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Arthrogryposis, Distal, Type 1A
Cryptorchidism OMIM:108120
Postaxial Acrofacial Dysostosis
Cryptorchidism, Micropenis, Abnormality of the kidney, Supernumerary nipple OMIM:263750
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Opitz Gbbb Syndrome
Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posterior urethral valve, Vesicour... OMIM:300000
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis ORPHA:139471
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryp... OMIM:229850
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism OMIM:608093
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ... ORPHA:96147
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Abnormality of thyroid physiology ORPHA:59
Noonan Syndrome 6
Cryptorchidism OMIM:613224
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism OMIM:301039
13Q12.3 Microdeletion Syndrome
Cryptorchidism ORPHA:412035
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, S... OMIM:616541
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... ORPHA:2588
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Hypothyroidism, Gray matter heterotopia, Vesicoureteral reflux, Abnormal bladder ... ORPHA:453499
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydronephrosis ORPHA:2839
Oculoskeletodental Syndrome
Renal agenesis, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism OMIM:618440
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia ORPHA:2250
Myopathy, Centronuclear, X-Linked
Cryptorchidism OMIM:310400
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Decreased serum insulin-like growth factor 1 ORPHA:314389
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasi... ORPHA:2874
Dowling-Degos Disease
Scrotal hyperpigmentation, Penile freckling ORPHA:79145
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the ... ORPHA:264450
Cog5-Cdg
Cryptorchidism, Micropenis, Neurogenic bladder, Urinary incontinence ORPHA:263487
Acrodysostosis
Hypogonadism, Cryptorchidism, Abnormality of female external genitalia, Irregular menstruation ORPHA:950
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Renal hypoplasia/aplasia, Cryptorchidism, A... ORPHA:2166
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Cryptorchidism, Micropenis OMIM:614969
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Micropenis OMIM:619435
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Ellis-Van Creveld Syndrome
Epispadias, Hypospadias, Cryptorchidism OMIM:225500
Noonan Syndrome 8
Cryptorchidism OMIM:615355
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... OMIM:600901
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hypoplasia of penis, Hypothyroidism, Supernumerary nipple ORPHA:1812
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Focal polymicrogyria, Cryptorchidism, Sex reversa... OMIM:612651
Meier-Gorlin Syndrome 4
Cryptorchidism, Breast hypoplasia OMIM:613804
Bachmann-Bupp Syndrome
Cryptorchidism, Focal polymicrogyria OMIM:619075
Fetal Akinesia Deformation Sequence
Cryptorchidism ORPHA:994
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... ORPHA:96149
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis ORPHA:140
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... ORPHA:2437
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Simplified gyral pattern, Enuresis, Aplas... ORPHA:96121
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Periventricular nodular heterotopia OMIM:619135
Flat Face-Microstomia-Ear Anomaly Syndrome
Cryptorchidism, Small scrotum ORPHA:1968
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Micropenis, Small scrotum, Hypospadias OMIM:607143
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Uric acid nephro... OMIM:300661
Smith-Kingsmore Syndrome
Cryptorchidism, Perisylvian polymicrogyria OMIM:616638
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology ORPHA:2189
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Cryptorchidism, Hypothyroidism OMIM:608104
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Cryptorchidism, Hypospadias OMIM:613026
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney ORPHA:166035
Seckel Syndrome 1
Cryptorchidism, Pachygyria, Hypospadias, Clitoral hypertrophy OMIM:210600
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... OMIM:257300
Emanuel Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, ... OMIM:609029
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Lissencephaly OMIM:612938
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, Hypospadias OMIM:300260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... ORPHA:2044
Au-Kline Syndrome
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves... OMIM:616580
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size OMIM:300534
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Simplified gyral pattern OMIM:619244
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
19P13.12 Microdeletion Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Hypothyroidism ORPHA:254346
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carci... OMIM:130650
Tarp Syndrome
Cryptorchidism, Hydronephrosis, Horseshoe kidney ORPHA:2886
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Clitoral hy... OMIM:214110
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Trisomy 18
Cryptorchidism, Abnormal morphology of female internal genitalia, Hydronephrosis, Abnormality of ... ORPHA:3380
Noonan Syndrome 5
Cryptorchidism OMIM:611553
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Cryptorchidism, Abnormality of female external genitalia, Hydron... ORPHA:235
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Polymicr... ORPHA:3310
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism OMIM:613266
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Nephrolithiasis, Hypoplastic labia majora, Nephrocalcinosis, Clitoral hypoplasia,... OMIM:268310
X-Linked Mandibulofacial Dysostosis
Cryptorchidism ORPHA:1131
Van Maldergem Syndrome 2
Bifid scrotum, Hypospadias, Periventricular nodular heterotopia, Cryptorchidism, Subcortical band... OMIM:615546
Acrocardiofacial Syndrome
Cryptorchidism, Hypoplasia of penis, Hyperthyroidism, Hypospadias ORPHA:2008
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... OMIM:603457
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Periventricular heterotopia, ... OMIM:606170
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cryptorchidism ORPHA:163654
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:284160
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism OMIM:224410
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Grade III ... OMIM:619522
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Cryptorchidism, Urachus fistula, Hypoplasia of the thymus, Hy... OMIM:612541
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Ureteropelvic junction obstruction, Duplicated collecting system, Small scrotum, H... OMIM:270400
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Congenital hypothyroidism OMIM:617930
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital ... OMIM:136140
Chromosome 10Q26 Deletion Syndrome
Vesicoureteral reflux, Cryptorchidism, Micropenis, Small scrotum OMIM:609625
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Diabetes mellitus, Premature ovarian insuff... ORPHA:125
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Splenopancr... OMIM:269150
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism ORPHA:3304
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Abn... OMIM:608836
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... ORPHA:449395
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydronephrosis ORPHA:1340
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism ORPHA:90322
20Q11.2 Microduplication Syndrome
Bifid scrotum, Cryptorchidism, Micropenis ORPHA:363659
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Decreased testicul... OMIM:300998
Recombinant 8 Syndrome
Cryptorchidism, Small scrotum, Abnormality of the kidney, Hypoplastic male external genitalia ORPHA:96167
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... OMIM:176270
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Prominent scrotal raphe ORPHA:1555
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Micropenis, Hypogonadism ORPHA:500055
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Polymicrogyria, Hydronephrosis ORPHA:488613
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Diabetes insipidus, Hydronephrosis ORPHA:35687
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Breast hypoplas... OMIM:613803
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypoplastic female external ge... ORPHA:1507
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hypoplastic nipples OMIM:618505
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Cryptorchidism, Urethral stenosis OMIM:613990
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Micropenis OMIM:614230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hypertrophy of the urinary bladder, Hydrocele testis, Unilateral renal dysplasia, Co... ORPHA:280633
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
3Mc Syndrome 2
Cryptorchidism, Hypospadias, Horseshoe kidney OMIM:265050
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism OMIM:602471
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Renal cyst, Renal ... ORPHA:93271
Arthrogryposis, Distal, Type 3
Cryptorchidism OMIM:114300
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Alagille Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Delayed ... ORPHA:52
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gray matter heterotopia, Gonadal dys... OMIM:618820
Microcephaly 26, Primary, Autosomal Dominant
Simplified gyral pattern, Pachygyria, Hydronephrosis OMIM:619179
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... OMIM:227646
Apert Syndrome
Hydronephrosis, Cryptorchidism, Vaginal atresia OMIM:101200
Oculocerebrocutaneous Syndrome
Cryptorchidism, Polymicrogyria ORPHA:1647
Cousin Syndrome
Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis OMIM:260660
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Simplified gyral p... OMIM:614231
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Hydronephrosis, Type I diabetes mellitus OMIM:619269
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Hypospadias OMIM:217980
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypoplasia, Hydroneph... ORPHA:83617
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Neuroendocrine neoplasm ORPHA:404443
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias OMIM:614052
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cryptorchidism, Small scrotum, Breast hypoplasia, Shawl scrotum OMIM:601353
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Chordee, Supernumerary nipple OMIM:616728
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor... ORPHA:818
Ogden Syndrome
Cryptorchidism ORPHA:276432
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Unilateral renal agenesis, Cryptorchidism, Gray matter heterotopia, Pachy... OMIM:620024
8P23.1 Microdeletion Syndrome
Cryptorchidism, Hypospadias ORPHA:251071
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Thakker-Donnai Syndrome
Rectovaginal fistula, Hydronephrosis ORPHA:1780
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... OMIM:227645
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Cryptorchidism, Penoscrotal transposition, Hypospadias OMIM:619148
Perlman Syndrome
Nephrogenic rest, Renal hamartoma, Cryptorchidism, Nephroblastomatosis, Pancreatic islet-cell hyp... OMIM:267000
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto... ORPHA:289
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... OMIM:193300
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Horseshoe kidney, Abnormality of th... ORPHA:138
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Hypospadias OMIM:617602
Ohdo Syndrome, X-Linked
Cryptorchidism, Micropenis, Small scrotum, Shawl scrotum OMIM:300895
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Micropenis, Small scrotum, Abnormality of the kidney ORPHA:495818
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Micropenis OMIM:616331
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Abnormal cortical gyration, Hydronephrosis, Unilateral breast ... OMIM:300968
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... ORPHA:96182
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism OMIM:619123
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
C Syndrome
Renal cortical cysts, Cryptorchidism, Clitoral hypertrophy OMIM:211750
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus OMIM:615465
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ure... ORPHA:1896
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363958
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis, Absent nipple OMIM:104350
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Macs Syndrome
Cryptorchidism, Urethral stenosis, Hypergonadotropic hypogonadism OMIM:613075
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothy... OMIM:618183
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic labia minora, Hypoplast... ORPHA:2554
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary... OMIM:151100
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Micropenis OMIM:620224
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Unilateral renal agenesis, Periventricular heterotopia, Pachygyria, Cryptorchidism, ... ORPHA:468631
Neurofaciodigitorenal Syndrome
Cryptorchidism, Unilateral renal agenesis ORPHA:2673
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Hypospadias, Decreased fertility, Abnormal localization of kidney ORPHA:500
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, Penile hyposp... OMIM:620083
Jacobsen Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Annular pancreas, Pachygyria, Hydronephrosis ORPHA:2308
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasi... ORPHA:264200
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Gray matter heterotopia, Pelvic kidney, Lissencephaly, Pachygyria, Agyria OMIM:247200
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:101800
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Hypogonadism ORPHA:2990
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Microp... OMIM:206900
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogona... ORPHA:1606
Kabuki Syndrome 1
Crossed fused renal ectopia, Premature thelarche, Cryptorchidism, Micropenis, Congenital hypothyr... OMIM:147920
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Dilatation of renal calices OMIM:614294
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis, Supernumerary nipple ORPHA:247262
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Bicornuate uterus, Hypoplasia of the ovary, Hypop... ORPHA:79328
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Hypoplastic labia majora, Clitoral hypoplasia, Micropenis, Hydronephrosis, Renal ... OMIM:180700
Pitt-Hopkins Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:610954
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Gray matter heterotopia, Vesicoureteral reflux, Hypothyroid... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Gray matter heterotopia, Vesicoureteral reflux, Hypothyroid... ORPHA:352665
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Abnormality of the upper urinary tract, Polymicrogyria, Macrogyria, Lissencephaly, P... ORPHA:2995
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Diabetes insipidus, Hematuri... ORPHA:900
Ritscher-Schinzel Syndrome 2
Cryptorchidism OMIM:300963
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Larsen Syndrome
Cryptorchidism ORPHA:503
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Aplasia of the uterus,... OMIM:618280
Vacterl With Hydrocephalus
Cryptorchidism, Renal hypoplasia/aplasia, Renal agenesis, Abnormal fallopian tube morphology ORPHA:3412
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... ORPHA:2658
Craniofrontonasal Syndrome
Hypospadias, Cryptorchidism, Shawl scrotum, Unilateral breast hypoplasia, Breast hypoplasia OMIM:304110
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Hydrocele testis, Hypoplastic nipples, Ureteropelvic junction obstr... OMIM:280000
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Simplified gyral pattern OMIM:615803
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Chordee, Hypospadias, Supernumerary nipple ORPHA:477993
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Micropenis, Hypoplastic nipples, Labial hypoplasia OMIM:608156
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Laurin-Sandrow Syndrome
Cryptorchidism ORPHA:2378
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Uretero... ORPHA:506358
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Micropenis OMIM:619005
Meier-Gorlin Syndrome 7
Urethral stricture, Hypospadias, Cryptorchidism, Breast aplasia, Vesicoureteral reflux, Micropeni... OMIM:617063
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias OMIM:618846
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... ORPHA:495875
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism, Abnormality of the urinary system, Ureteral stenosis ORPHA:2719
16P13.11 Microdeletion Syndrome
Cryptorchidism, Abnormality of neuronal migration ORPHA:261236
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... OMIM:620305
Distal Duplication 17Q
Vesicoureteral reflux, Cryptorchidism, Renal duplication ORPHA:3379
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism OMIM:614438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Pachygyria, Cryptorchidism, Hypoplastic male external genitalia, Polymicrogyria, Renal dy... OMIM:236670
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism OMIM:613834
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Rectovaginal fistula, Hypothyroidism, Hydronephrosis OMIM:619426
Chops Syndrome
Vesicoureteral reflux, Cryptorchidism, Horseshoe kidney OMIM:616368
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Faciodigitogenital Syndrome, Autosomal Recessive
Pollakisuria, Cryptorchidism, Shawl scrotum OMIM:227330
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Hydronephrosis ORPHA:541423
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, A... ORPHA:2636
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormality of the endocrine system, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst... ORPHA:798
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Nephrolithiasis, Abnormality of ... ORPHA:353281
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... OMIM:122470
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cryptorchidism, Renal cyst, Macrogyria, Hypoplastic nipples, Polycystic kidney dyspl... OMIM:614866
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Gray matter heterotopia, Adrenal gland dys... OMIM:236680
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Renal hypoplasia, Renal cyst OMIM:616300
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, Annular pancreas OMIM:147791
Robinow Syndrome, Autosomal Dominant 3
Vesicoureteral reflux, Cryptorchidism, Clitoral hypoplasia, Micropenis OMIM:616894
Fanconi Anemia
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu... ORPHA:84
Cerebellofaciodental Syndrome
Cryptorchidism OMIM:616202
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Nephrotic syndrome, Hydronephrosis OMIM:601776
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Vesicoureteral reflux, Abnormal salivary gla... ORPHA:2363
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Increased urinary glycerol, Adrenal insufficiency OMIM:307030
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased respons... OMIM:214800
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:613884
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Hydronephrosis ORPHA:210122
Bloom Syndrome
Cryptorchidism, Azoospermia, Type II diabetes mellitus, Decreased fertility in females OMIM:210900
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Abnormal co... OMIM:610829
Meier-Gorlin Syndrome 6
Decreased response to growth hormone stimulation test, Cryptorchidism, Simplified gyral pattern, ... OMIM:616835
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Pa... ORPHA:564
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased ... OMIM:188400
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Ectopic kidney, Female pseudohermaphroditism, Shawl scrotum ORPHA:1519
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Hypoplasia of penis, Hypospadias, Epispadias, Cryptorchidism, Hypoplas... ORPHA:3107
Kbg Syndrome
Epispadias, Cryptorchidism OMIM:148050
Mosaic Trisomy 20
Cryptorchidism, Abnormality of the kidney, Horseshoe kidney ORPHA:1724
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Hydronephrosis, Delayed puberty OMIM:614921
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter... ORPHA:438213
Rubinstein-Taybi Syndrome 1
Hypospadias, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Papillary cystadenoma... OMIM:180849
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus... OMIM:135900
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hydronephrosis OMIM:251260
Meier-Gorlin Syndrome 1
Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, Shawl scrotum, Micropenis, Br... OMIM:224690
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret... ORPHA:857
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
X-Linked Intellectual Disability, Nascimento Type
Vesicoureteral reflux, Cryptorchidism, Micropenis, Hypospadias ORPHA:163956
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Cryptorchidism, Labial hypertrophy, Neonatal insulin-dependent diabetes mellitus ORPHA:96191
Distal Deletion 3P
Cryptorchidism ORPHA:1620
Focal Dermal Hypoplasia
Ureteral duplication, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia... OMIM:305600
Double Outlet Left Ventricle
Cryptorchidism ORPHA:3427
Distal Deletion 15Q
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorc... ORPHA:1596
Roberts Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Clitoral hypertrophy ORPHA:3103
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis OMIM:608779
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Dyskeratosis Congenita, X-Linked
Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, Horseshoe kidney, Decreased testicular ... OMIM:305000
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Cryptorchidism, Rectoperineal fistula OMIM:618748
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Cryptorchidism, Rectovagi... OMIM:243800
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Bicornuate u... OMIM:265380
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Re... ORPHA:2052
Coffin-Siris Syndrome
Hypospadias, Cryptorchidism, Simplified gyral pattern, Horseshoe kidney, Papillary thyroid carcinoma ORPHA:1465
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Small scrotum, Hypospadias, Ureterocele OMIM:616734
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Cryptorchidism, Hypopituitarism, Periventricular nodular heterotopia OMIM:603671
Femoral-Facial Syndrome
Renal agenesis, Maternal diabetes, Abnormal renal collecting system morphology, Cryptorchidism, H... OMIM:134780
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... ORPHA:861
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Abnormal fallopia... ORPHA:2556
Hajdu-Cheney Syndrome
Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:268261
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Chordee, Hypospadias, Anterior pituitary hypoplasia OMIM:151050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, H... ORPHA:2273
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:619004
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, ... ORPHA:3455
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism OMIM:192430
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism ORPHA:1101
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia, Hydronephrosis, Unilateral renal agenesis OMIM:308050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr... ORPHA:353277
Monosomy 9P
Ambiguous genitalia, Cryptorchidism, Ureteropelvic junction obstruction, Hypospadias ORPHA:261112
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism... OMIM:261540
Poland Syndrome
Duplicated collecting system, Diabetes mellitus, Hypospadias, Renal hypoplasia/aplasia, Cryptorch... ORPHA:2911
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Bilateral renal age... OMIM:619194
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Epispadias, Cryptorchidism, Simplified gyral pattern, Unilateral ren... OMIM:615948
Cardiofaciocutaneous Syndrome 1
Hydronephrosis OMIM:115150
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Native American Myopathy
Cryptorchidism ORPHA:168572
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Abnormality of th... ORPHA:201
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Biliary hyperplasia, Abnormal circulating thyroi... OMIM:619991
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Hypotonia, Ataxia, And Delayed Development Syndrome
Vesicoureteral reflux, Cryptorchidism, Micropenis OMIM:617330
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Osteoglophonic Dysplasia
Cryptorchidism, Chordee, Hypospadias OMIM:166250
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Congenital hypothyroidism, Ureteropelvic junction obstruction, Polymicrogyria... OMIM:616973
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Noonan Syndrome 10
Cryptorchidism OMIM:616564
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hypospadias, Hydronephrosis OMIM:304120
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, P... ORPHA:261537
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Hypoplasia of the thymus, Hydronephrosis, Multiple bladder diverticula OMIM:613177
3Mc Syndrome 1
Hydronephrosis, Supernumerary nipple OMIM:257920
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of renal pelvis, Pancr... OMIM:312870
Mowat-Wilson Syndrome
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A... ORPHA:2152
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Campomelic Dysplasia
Sex reversal, Hypospadias, Hydronephrosis OMIM:114290
Fraser Syndrome 1
Hypospadias, Abnormal cortical gyration, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplas... OMIM:219000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Micropenis OMIM:609945
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Barber-Say Syndrome
Absent nipple, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, Hypoplastic ni... OMIM:209885
Congenital Myopathy 13
Cryptorchidism OMIM:255995
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hyperinsuline... ORPHA:508
Mend Syndrome
Cryptorchidism, Crossed fused renal ectopia OMIM:300960
Osteopetrosis With Renal Tubular Acidosis
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Secondary hyperparathyr... ORPHA:2785
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Holoprosencephaly 3
Central diabetes insipidus, Hydronephrosis OMIM:142945
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... ORPHA:79500
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... OMIM:107480
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Adrenal hypoplasia, Crypt... OMIM:249000
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Decreased serum insulin-like growth ... OMIM:301068
Xeroderma Pigmentosum
Cryptorchidism, Aminoaciduria, Hypogonadism, Decreased testicular size ORPHA:910
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Schneckenbecken Dysplasia
Cryptorchidism ORPHA:3144
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Proteinuria OMIM:616682
Tibial Hemimelia
Ambiguous genitalia, Cryptorchidism, Hypospadias ORPHA:93322
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, P... ORPHA:261552
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Aplasia/h... ORPHA:672
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... ORPHA:2729
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Treacher Collins Syndrome 1
Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Cryptorchidism, Hypospadias, Decreased testicular size, Delayed puberty ORPHA:459070
C Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ... ORPHA:1308
Neurofibromatosis-Noonan Syndrome
Cryptorchidism OMIM:601321
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypogonadism, Vesicoureteral reflux... OMIM:309580
Noonan Syndrome 3
Cryptorchidism OMIM:609942
Beckwith-Wiedemann Syndrome
Ureteral duplication, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Abnorm... ORPHA:116
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... ORPHA:3047
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Hydronephrosis, Increased serum serotonin ORPHA:100078
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Polymicrogyria, Hydronephrosis, Renal duplication OMIM:267750
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Hydronephrosis OMIM:620330
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism OMIM:620025
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Hypospadias, Male infertility OMIM:163950
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction OMIM:304150
Faundes-Banka Syndrome
Cryptorchidism, Premature thelarche, Delayed puberty OMIM:619376
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Carpenter Syndrome 2
Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Hypoplastic nipples, Shawl scrotu... OMIM:614976
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Omodysplasia 1
Cryptorchidism OMIM:258315
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Anterio... OMIM:607932
Monosomy 22Q13.3
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis ORPHA:48652
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Abnormal cortical gyration, Cyst of the ductus choledochus, Abnormal circulating... ORPHA:480880
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... OMIM:308205
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Abnormality of the kidney, Supernumerary nipple, Cryptorchidism OMIM:235730
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Moderate albuminuria, Renal tubular epithelial necrosis, Hema... ORPHA:95455
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidney, Bicornuate uter... OMIM:268300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Dilatation of the renal pelvis, S... OMIM:619534
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia OMIM:309800
Viss Syndrome
Hypothyroidism, Hydronephrosis OMIM:619472

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 Kctd13

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 Kctd13.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models. Molecular autism (January 2021) Kctd13em2(IMPC)Ics PMC7805198
Kctd13 deletion reduces synaptic transmission via increased RhoA. Nature (November 2017) Kctd13tm1(KOMP)Vlcg Kctd13tm1.1(KOMP)Vlcg 29088697

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kctd13tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Kctd13em2(IMPC)Ics Deletion Mice
Kctd13tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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