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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 A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B 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
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Idiopathic Isolated Micropenis
Micropenis ORPHA:95707
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
7P22.1 Microduplication Syndrome
Abnormality of the kidney, Cryptorchidism ORPHA:314034
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphall... OMIM:615542
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Hypogonadism, Hypoplasia of penis ORPHA:85274
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Image Syndrome
Hypospadias, Adrenal hypoplasia, Hydronephrosis, Hypogonadism, Cryptorchidism ORPHA:85173
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Gemignani Syndrome
Delayed puberty, Abnormal testis morphology, Hypoplasia of penis ORPHA:2074
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Abnormality of the endocrine system, Bifid scrotum, Cryptorchidism, Pe... OMIM:264600
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Abnormal renal morphology, Oligoz... ORPHA:48
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:620356
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis OMIM:301060
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Hao-Fountain Syndrome
Cryptorchidism, Micropenis, Premature adrenarche OMIM:616863
Macdermot-Winter Syndrome
Hypoplastic male external genitalia, Hydronephrosis OMIM:247990
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Oligozoospermia, Nephritis, Renal dysplasia, Cryptorchidism, Pyelonephr... OMIM:314300
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr... ORPHA:457083
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
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
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Micropenis, Bilateral cryptorchidism OMIM:300982
3Q13 Microdeletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Hypoplasia of penis ORPHA:1621
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h... OMIM:202150
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Cryp... OMIM:275400
Adrenal Hypoplasia, Congenital
Renal salt wasting, Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... OMIM:300200
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Diabetes mellitus, Primary amenorrhea... OMIM:610628
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Cryptorchidism, Hypogonadism ORPHA:261483
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
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
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Deleted in azoospermia
Azoospermia OMIM:400003
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Hypogonadism, Cryptorchidi... ORPHA:3363
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614880
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:612702
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Decreased testicular size, Hypogonadism, Primary amenorrhea, Micropenis OMIM:614962
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Bardet-Biedl Syndrome 19
External genital hypoplasia, Renal hypoplasia, Hydronephrosis, Hypogonadism, Renal insufficiency OMIM:615996
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc... OMIM:613390
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Cryptorchidism, Diabetes mellitus, Micropenis ORPHA:85282
Spermatogenic Failure 75
Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormone level, Male inf... OMIM:619949
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypospadias, Hypoplasia of penis ORPHA:1381
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Congenital Myopathy 19
Cryptorchidism, Hydronephrosis, Renal atrophy OMIM:618578
Meier-Gorlin Syndrome 8
Nephroptosis, Unilateral renal hypoplasia, Bilateral cryptorchidism OMIM:617564
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, Penile hypospadias, ... ORPHA:456328
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Isolated Hemihyperplasia
Nephroblastoma, Cryptorchidism ORPHA:2128
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Gordon Syndrome
Cryptorchidism ORPHA:376
Crandall Syndrome
Abnormal testis morphology, Hypogonadism, Hypoplasia of penis ORPHA:202
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Urinary incontinence, Infertility, Decreased testicular size, Red... ORPHA:320391
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Micropenis, Simplified gyral pattern OMIM:619180
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Simplified gyral pattern OMIM:616681
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypog... OMIM:244200
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cryptorchidism OMIM:250951
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus, Renal agenesis,... ORPHA:2578
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Simplified gyral pattern, Cryptorchidism, Micropenis, Hypospadias OMIM:618815
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed puberty, Hypospadias, Hypoplasia of penis, Nephrolithiasis, Decreased fertility ORPHA:1816
Autosomal Recessive Amelia
Small scrotum, Cryptorchidism, Hypoplasia of penis ORPHA:1027
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Non-Syndromic Posterior Hypospadias
Abnormality of the endocrine system, Bifid scrotum, Androgen insufficiency, Urethral diverticulum... ORPHA:95706
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis, Renal insufficiency OMIM:613861
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Micropenis, Hypospadias OMIM:612626
Caudal Duplication
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus didelphys, Abnormal penis ... ORPHA:1756
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia ORPHA:408
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Stt3A-Cdg
Small scrotum, Cryptorchidism, Micropenis ORPHA:370921
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u... ORPHA:432
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Mmep Syndrome
Cryptorchidism ORPHA:3434
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Ichthyosis, X-Linked
Testicular neoplasm, Cryptorchidism OMIM:308100
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Lissencephaly, Cryptorchidism, Rena... ORPHA:281090
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Hydronephrosis, Congenital posterior urethral valve OMIM:100100
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Small scrotum, Cryptorchidism, Hydronephrosis, Hypoplasia of penis ORPHA:2083
Young Syndrome
Azoospermia OMIM:279000
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Type II diabetes mellitus, Hypogonadism, Abnormal... ORPHA:2234
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Micropenis, Hydronephrosis OMIM:619185
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad... OMIM:620501
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Stt3B-Cdg
Small scrotum, Cryptorchidism, Micropenis ORPHA:370924
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:3459
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Type II diabetes mellitus, Cryptorchidi... ORPHA:2377
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Cryptorchidism, Hypospadias OMIM:300997
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Abnormality of neuronal migration, Cryptorchidism, Hypoplasia of penis ORPHA:2772
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Hypoplasia of the prostate, Micropenis, Cryptorchidism OMIM:301900
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Cryptorchidism, Micropenis, Abnor... ORPHA:1926
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Micropenis OMIM:615597
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:168593
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis, Duplicated collecting system OMIM:620071
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Hypoplastic male external genitalia, Cryptorchidism OMIM:618823
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... ORPHA:2973
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:502430
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Long penis ORPHA:1672
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, Adrenal hypop... OMIM:614732
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Reni Syndrome
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Hypothy... OMIM:617575
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Mosaic Trisomy 14
Cryptorchidism, Hypospadias, Hypoplasia of penis ORPHA:1703
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Male infertility, Primary testicular failure, Decreased glom... ORPHA:85450
Intellectual Disability, Wolff Type
Cryptorchidism, Hypospadias ORPHA:3080
Autosomal Dominant Omodysplasia
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Hypoplasia of penis ORPHA:93328
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:618504
Non-Distal Duplication 10Q
Cryptorchidism, Abnormality of the urinary system ORPHA:1695
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Gray matter heterotopia, Hydronephrosis ORPHA:531151
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Hydronephrosis, Hypogonadism, Vaginal atresia, Cystic renal dysplasia OMIM:615989
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Cryptorchidism,... OMIM:615849
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Diabetes mel... OMIM:222300
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias OMIM:620135
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Partial development of the penile shaft, Dysplastic testes, Cryptorchi... OMIM:608800
Serkal Syndrome
Abnormality of the adrenal glands, Hypospadias, Renal agenesis, Hypoplasia of the bladder, Abnorm... ORPHA:139466
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Shawl scrotum, Cryptorchidism, Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Micro Syndrome
Delayed puberty, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia, Hydronephros... ORPHA:2510
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Decreased testicular size, Micropenis, Hypogonadotropic hypogonadism OMIM:614838
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure... OMIM:154230
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Unilateral renal agenesis,... OMIM:609757
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Shawl scrotum, Cryptorchidism, Micropenis OMIM:615433
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Delayed puberty, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:147950
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Alazami-Yuan Syndrome
Cryptorchidism OMIM:617126
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Li-Campeau Syndrome
Hypothyroidism, Cryptorchidism, Micropenis OMIM:619189
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Hypospadias, Glandular hypospadias, Bifid scrotum, Bilateral cryptorch... OMIM:300219
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Abruzzo-Erickson Syndrome
Cryptorchidism, Coronal hypospadias, Hypospadias, Abnormal localization of kidney ORPHA:921
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:319332
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Coffin-Siris Syndrome 8
Cryptorchidism OMIM:618362
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R... ORPHA:2842
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
Branchial Arch Syndrome, X-Linked
Cryptorchidism OMIM:301950
Vacterl/Vater Association
Hypospadias, Ectopic kidney, Hypoplasia of penis, Bifid scrotum, Renal agenesis, Hydronephrosis, ... ORPHA:887
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism OMIM:618766
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Midshaft hypospadias, Cryptorchidism, Anterior hypopituitarism ORPHA:2863
Prune Belly Syndrome
Decreased fertility, Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urin... ORPHA:2970
Hemochromatosis, Type 1
Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ... OMIM:235200
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari... ORPHA:91351
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Nephrocalcinosis OMIM:615633
Fetal Akinesia Deformation Sequence 4
Cryptorchidism OMIM:618393
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism ORPHA:2958
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Proteinuria, Type I diabetes mellitus, Cryptorchidism, Nephropathy ORPHA:1192
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Atretic vas deferens, Decreased numbers of ... OMIM:137920
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
X-Linked Lissencephaly With Abnormal Genitalia
Ambiguous genitalia, Cryptorchidism, Pachygyria, Hypoplasia of penis ORPHA:452
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Male urethral meatus stenosis, Hypoplastic nipples, Absent nipple, Cryptorchidism OMIM:616001
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Hyposthenuria, Anterio... OMIM:615926
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Polymicrogyria, Decreased testicular size, Simplified gyral pattern... OMIM:300354
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl... OMIM:601076
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Dysgyria, Cryptorchidism, Hydronephrosis OMIM:620327
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Retrograde ejaculation, Hematuria, Dysuri... ORPHA:49041
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Gonadoblastoma, Dysgerminoma, Sex... OMIM:613762
Prieto Syndrome
Cryptorchidism OMIM:309610
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Micropenis OMIM:614684
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Bifid uterus, Renal duplicatio... ORPHA:83628
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Imagawa-Matsumoto Syndrome
Polymicrogyria, Cryptorchidism OMIM:618786
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism OMIM:273390
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:3409
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Polymicrogyria, Renal hypoplasia, Hydronephrosis, Cryptorchidism OMIM:618494
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... OMIM:250790
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Oligozoospermi... ORPHA:786
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy... ORPHA:3378
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Micropenis ORPHA:370968
Currarino Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Bifid scrotum, Male pseudohermaphroditism ORPHA:1552
Kallmann Syndrome
Delayed puberty, Breast hypoplasia, Decreased fertility, Erectile dysfunction, Anterior hypopitui... ORPHA:478
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of penis, Nephroblastoma, Cryptorchidism ORPHA:2849
8P23.1 Duplication Syndrome
Hydronephrosis, Adrenal insufficiency ORPHA:251076
Chromosome 2P16.1-P15 Deletion Syndrome
Decreased testicular size, Hydronephrosis, Hypogonadism, Pachygyria, Cryptorchidism, Micropenis OMIM:612513
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Decreased testicular size, Hypogonadism, Small scrotum, Cryptorchidism ORPHA:127
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Bifid scrotum, Microphallus, Hypothyroidism, Abnormal scrotum morphology, Dysmenorrh... ORPHA:397590
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, De... OMIM:614736
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Fetal Akinesia Deformation Sequence 2
Cryptorchidism OMIM:618388
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Small scrotum, Ambiguous genitalia, Cryptorchidism, Multic... ORPHA:261344
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... ORPHA:261519
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Cryptorchidism, Micropenis OMIM:612447
Lead Poisoning
Delayed puberty, Decreased male libido, Decreased circulating osteocalcin level, Infertility, Oli... ORPHA:330015
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism OMIM:613970
3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic aciduria, Hypospadias, Decreased testicular size, 3-Methylglutaric aciduria, C... OMIM:610198
Diphallia
Penoscrotal transposition, Epispadias, Renal malrotation, Ureteral duplication, Bifid penis, Hypo... ORPHA:227
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Diabetes mellitus... ORPHA:261265
Seizures-Scoliosis-Macrocephaly Syndrome
Abnormality of the kidney, Cryptorchidism ORPHA:466926
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Hydronephrosis ORPHA:364028
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Cryptorchidism, Microphallus OMIM:300957
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Premature pubarche, Cryptorchidism ORPHA:457205
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydr... ORPHA:2473
22Q11.2 Duplication Syndrome
Aplasia/Hypoplasia of the thymus, Hydronephrosis, Displacement of the urethral meatus, Urethral s... ORPHA:1727
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Abnormality of the kidney, Hypospadias... ORPHA:1772
48,Xxyy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:10
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Congenital Myopathy 9A
Cryptorchidism OMIM:618822
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Microphthalmia, Syndromic 8
Cryptorchidism OMIM:601349
Zellweger Syndrome
Clitoral hypertrophy, Hypospadias, Polymicrogyria, Primary adrenal insufficiency, Hydronephrosis,... ORPHA:912
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, Hydronephros... ORPHA:314588
Suleiman-El-Hattab Syndrome
Cryptorchidism, Hydronephrosis OMIM:618950
Ritscher-Schinzel Syndrome 1
Adrenal hypoplasia, Decreased response to growth hormone stimulation test, Hydronephrosis, Hyposp... OMIM:220210
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Precocious puberty, Hypogonadism, Cryptorchidism ORPHA:3306
Neurofibromatosis-Noonan Syndrome
Cryptorchidism ORPHA:638
Oculocerebrocutaneous Syndrome
Cryptorchidism, Gray matter heterotopia OMIM:164180
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Hydronephrosis, Hydroureter, Diabetes insipidus OMIM:598500
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Decreased testicular size, Cryptorchidism ORPHA:85279
Cornelia De Lange Syndrome 5
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism OMIM:300882
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Shawl scrotum, Cryptorchidism, Micropenis, Pineal cyst OMIM:617516
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis ORPHA:171839
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Horseshoe kidney, Hypospadias OMIM:218350
Penile Agenesis
Hydroureter, Maternal diabetes, Abnormality of the bladder, Bilateral renal agenesis, Absent peni... ORPHA:49
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, External genital hypoplasia, Cryptorchidism OMIM:600118
Weaver Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3447
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism ORPHA:1338
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:1387
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis, Hypoplastic labia majora OMIM:619217
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... OMIM:236700
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Hypogonadism ORPHA:85323
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Micropenis, Hypospadias ORPHA:2872
Distal Monosomy 7Q36
Cryptorchidism, Hypoplasia of penis ORPHA:1636
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Penile freckling, Hurthle cell thyroid adenoma ORPHA:210548
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology... ORPHA:2315
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:178148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Micropenis OMIM:613156
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Premature ovarian insufficiency, Hypospadi... ORPHA:96179
Seckel Syndrome 5
Clitoral hypertrophy, Abnormal cortical gyration, Hypospadias, Simplified gyral pattern, Cryptorc... OMIM:613823
Distal Duplication 18Q
Abnormal female external genitalia morphology, Cryptorchidism, Hypoplasia of penis ORPHA:1716
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangiectasis, Hydro... ORPHA:1655
Genitopatellar Syndrome
Clitoral hypertrophy, Hydronephrosis, Small scrotum, Cryptorchidism, Multicystic kidney dysplasia ORPHA:85201
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Lissencephaly, Cryptorchidism, Pachygyria OMIM:620316
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism ORPHA:568
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Bifid scrotum, Hypothyroidism, Renal hypoplasia, Renal dysplasia, Cryptorchi... ORPHA:85321
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Cryptorchidism OMIM:619908
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Hydronephrosis, Cryptorchidism,... OMIM:301056
Bresek Syndrome
Vesicoureteral reflux, Renal dysplasia, Decreased testicular size, Renal hypoplasia, Hypoplasia o... ORPHA:85284
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Hypospadias, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:619718
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic kidney dysplasia, Abnormal lo... ORPHA:1988
Omodysplasia 2
Hypospadias, Labial hypoplasia, Dyspareunia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidis... OMIM:164745
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... ORPHA:322
Trigonocephaly 1
Long penis OMIM:190440
Tonne-Kalscheuer Syndrome
Decreased testicular size, Cryptorchidism, Micropenis, Hypospadias OMIM:300978
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Small pituitary gland, Hypoplastic labia minora,... ORPHA:398079
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Cryptorchidism, Type I... ORPHA:254516
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Cryptorchidism, Hypospadias, Congenital hypothyroidism OMIM:614613
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligome... ORPHA:79239
Familial Glucocorticoid Deficiency
Renal salt wasting, Azoospermia, Recurrent urinary tract infections, Decreased circulating dehydr... ORPHA:361
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Micropenis, Hydronephrosis OMIM:617798
X-Linked Intellectual Disability, Pai Type
Cryptorchidism, Hydrocele testis ORPHA:85322
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:228402
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Cryptorchidism OMIM:618577
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis ORPHA:261290
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Distal Duplication 15Q
Abnormal female external genitalia morphology, Cryptorchidism ORPHA:1707
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Micropenis, Hypospadias OMIM:616897
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... ORPHA:2232
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflux, Renal cyst, Hydrone... ORPHA:261494
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Cryptorchidism, Hydronephrosis OMIM:613001
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis ORPHA:457193
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, External genital hypoplasia, Cryptorchidism ORPHA:1867
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Renal d... ORPHA:96169
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism OMIM:272440
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hydronephrosis, Cryptorchidism, Micropenis, Thyroid lymphangiectasia OMIM:235255
Rahman Syndrome
Cryptorchidism OMIM:617537
Fg Syndrome 3
Cryptorchidism OMIM:300406
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Hypoplasia of penis, Recurrent urinary tract infections, Male pseudohe... ORPHA:847
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Precocious puberty, Hydronephrosis, Cryptorchidism, Micropenis... ORPHA:96092
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Long penis, Precocious puberty, Diabetic ketoacidosis, In... OMIM:262190
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
3-Methylglutaconic aciduria, Cryptorchidism, Hypospadias, Abnormality of the kidney ORPHA:1194
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R... ORPHA:237
48,Xxxy Syndrome
Azoospermia, Hypoplasia of penis, Renal dysplasia, Infertility, Decreased testicular size, Type I... ORPHA:96263
Warburg Micro Syndrome 4
Decreased testicular size, Perisylvian polymicrogyria, Small scrotum, Cryptorchidism, Micropenis OMIM:615663
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Ectopic kidney ORPHA:401935
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus, Amenorrhea, Cryptorchidism, Micropenis OMIM:606593
Mcdonough Syndrome
Cryptorchidism ORPHA:2471
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis OMIM:278300
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Verloove Vanhorick-Brubakk Syndrome
Abnormality of the parathyroid gland, Cryptorchidism, Abnormal localization of kidney ORPHA:3429
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Caudal Regression Syndrome
Ureteral duplication, Maternal diabetes, Ectopic kidney, Vesicoureteral reflux, Abnormality of th... ORPHA:3027
Genitopalatocardiac Syndrome
Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism, Multicystic ki... ORPHA:2075
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Noonan Syndrome 4
Cryptorchidism, Ureteral duplication, Hydronephrosis OMIM:610733
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism OMIM:618958
49,Xxxxy Syndrome
Renal hypoplasia/aplasia, Azoospermia, Hypoplasia of penis, Renal dysplasia, Infertility, Decreas... ORPHA:96264
Martin-Probst Syndrome
Renal insufficiency, Hypoplastic nipples, Bifid scrotum, Hypothyroidism, Chordee, Proteinuria, Cr... OMIM:300519
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Renal hypoplasia, Ab... ORPHA:2470
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Renal dysplasia, Cryptorchidism, Hypospadias OMIM:300004
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:1263
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus... ORPHA:2237
Schaaf-Yang Syndrome
Cryptorchidism, Micropenis, Hypogonadism OMIM:615547
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, H... ORPHA:99776
Silver-Russell Syndrome 3
Ambiguous genitalia, Penoscrotal hypospadias, Unilateral cryptorchidism OMIM:616489
Ruvalcaba Syndrome
Delayed puberty, Cryptorchidism OMIM:180870
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Cree Mental Retardation Syndrome
Cryptorchidism, Bifid scrotum, Hypospadias OMIM:606851
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Cryptorchidism, Aminoaciduria OMIM:249270
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Cryptorchidism, Hypogonadism ORPHA:228390
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Hypoplastic male external genitalia, Cryptorchidism, Horseshoe kidney ORPHA:502434
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, Hypospadias OMIM:614541
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Small scrotum, Cryptorchidism ORPHA:1970
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Noonan Syndrome 9
Cryptorchidism, Hydroureter OMIM:616559
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism OMIM:618484
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Gapo Syndrome
Oligozoospermia, Nephrolithiasis, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
3C Syndrome
Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of neuronal migration, Hydronep... ORPHA:7
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricosuria, Testicular atrophy, Nephrolithiasis OMIM:300322
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism OMIM:615502
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Cryptorchidism ORPHA:486815
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Intellectual Developmental Disorder, Autosomal Dominant 51
Cryptorchidism, Unilateral cryptorchidism OMIM:617788
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Cryptorchidism, Renal insufficiency OMIM:611209
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ... OMIM:614527
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, C... ORPHA:251066
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Epispadias, Abnormal cortical gyration, Hypospadias, Lissencephaly, Polymicrogyria, Bifid scrotum... ORPHA:2211
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Abnormal scrotum morphology, Hypospadias, Cryptorchidism ORPHA:2505
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism ORPHA:65759
Qazi-Markouizos Syndrome
Cryptorchidism ORPHA:3010
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Microphthalmia, Syndromic 5
Cryptorchidism, Micropenis, Ectopic posterior pituitary OMIM:610125
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Shawl scrotum, Cryptorchidism ORPHA:1778
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
3Mc Syndrome 3
Penoscrotal hypospadias, Bifid scrotum, Cryptorchidism, Micropenis, Horseshoe kidney OMIM:248340
Rin2 Syndrome
Premature ovarian insufficiency, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:217335
Microphthalmia, Syndromic 9
Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hydronephrosis, Renal malrota... OMIM:601186
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypog... ORPHA:293967
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3082
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Supernumerary nipple OMIM:617635
Mosaic Trisomy 8
Decreased testicular size, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Diabetes mellitus, Cryptorchidism, Male hypogonadism OMIM:615381
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Cryptorchidism, Multicysti... ORPHA:2059
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Hydronephrosis, Shawl scrotum, Cryptorchidism, Micropenis OMIM:301040
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu... OMIM:604292
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Adrenal hypop... OMIM:146510
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Hypospadias ORPHA:98791
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Vesicoureteral reflux, Pseudohypoparathyroidism, Renal hypop... ORPHA:464288
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hypospadias, Hypoplasia of penis ORPHA:77298
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... ORPHA:465508
Warburg Micro Syndrome 2
Polymicrogyria, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora OMIM:614225
Chromosome 18P Deletion Syndrome
Decreased testicular size, Gonadal dysgenesis, Cryptorchidism, Micropenis OMIM:146390
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Cryptorchidism, Micropenis, Microphallus OMIM:300486
Mirage Syndrome
Hypospadias, Recurrent urinary tract infections, Adrenal hypoplasia, Microphallus, Decreased test... OMIM:617053
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Developmental Delay With Or Without Dysmorphic Facies And Autism
Polymicrogyria, Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis... OMIM:618454
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Polymicrogyria, Diabetes mellitus, Cryptorchidism, Hypospadias ORPHA:500159
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism OMIM:300946
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Hypospadias, Polymicrogyria, Adrenal hypoplasia, Gray matter heterotopia, R... OMIM:214100
Carpenter Syndrome 1
External genital hypoplasia, Hydroureter, Precocious puberty, Hydronephrosis, Cryptorchidism OMIM:201000
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Vesicoureteral reflux, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypo... OMIM:617159
German Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:2077
Temple Syndrome
Decreased testicular size, Maturity-onset diabetes of the young, Cryptorchidism, Precocious puberty OMIM:616222
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Cryptorchidism, Hypospadias, Hydronephrosis OMIM:616737
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Abnormality of neuronal migrat... ORPHA:464311
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Bilateral cryptorchidism, Decreased testicular size, Renal agenesis, Micropenis,... ORPHA:2326
Ohdo Syndrome
Small scrotum, Cryptorchidism, Proteinuria OMIM:249620
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Tetraploidy
Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Supernumerary nipple, Hypospadias OMIM:618109
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Pelvic kidney, Vesicoureteral reflux, Hydronephrosis, Cryptorchidism, Micro... OMIM:618653
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:98754
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Congenital hypothyroidism, Cryptorchidism, Micropenis, Supernumerary nipple ORPHA:2519
Scarf Syndrome
Hypoplastic nipples, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis ORPHA:3134
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Baraitser-Winter Syndrome 1
Lissencephaly, Cryptorchidism, Micropenis, Pachygyria OMIM:243310
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Decreased testicular size, Hydronephrosis, Hypogonadism, Supernumer... ORPHA:261349
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hydronephrosis, Hypospadias OMIM:616449
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula ORPHA:2728
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Renal dysplasia... OMIM:614080
Blepharonasofacial Malformation Syndrome
Cryptorchidism ORPHA:1252
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Focal polymicrogyria, Recurrent urinary tract infections, Vesicoureteral reflux, Cry... OMIM:619103
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Fanconi Anemia, Complementation Group A
Male infertility, Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Hyperg... OMIM:227650
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Kapur-Toriello Syndrome
Polymicrogyria, Micropenis, Pachygyria, Cryptorchidism, Abnormality of the urinary system, Hypopl... OMIM:244300
Triploidy
Ambiguous genitalia, Cryptorchidism, Hypospadias, Hypoplasia of penis ORPHA:3376
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:98793
Fetal Hydantoin Syndrome
Cryptorchidism, Bifid scrotum ORPHA:1912
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:250999
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Vesicoureteral reflux, Hydronephrosis, Pachygyria, Cryptorchidism, Horseshoe kidn... OMIM:235510
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:177904
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu... OMIM:129900
Ulnar-Mammary Syndrome
Delayed puberty, Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Renal hypoplasia, Abno... ORPHA:3138
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:177901
Short Stature-Micrognathia Syndrome
Small scrotum, Cryptorchidism, Micropenis, Penoscrotal hypospadias OMIM:617164
Kabuki Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Precoci... ORPHA:2322
Multifocal Atrial Tachycardia
Hypothyroidism, Cryptorchidism ORPHA:3282
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Non-Distal Duplication 13Q
Cryptorchidism ORPHA:1702
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, 3-Methylglutaconic aciduria, Cryptorchidism ORPHA:496790
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hypospadias, Hydronephrosis OMIM:300712
Bladder Exstrophy
Epispadias, Abnormal clitoris morphology, Hypoplasia of penis, Recurrent urinary tract infections... ORPHA:93930
Lig4 Syndrome
Hypothyroidism, Cryptorchidism, Type II diabetes mellitus, Hypoplasia of penis ORPHA:99812
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Labial hypoplasia, Pelvic kidney, Vesico... OMIM:300707
Trisomy 8Q
Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis ORPHA:1752
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Cryptorchidism, Micropenis, Supernumerary nipple OMIM:618929
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Polymicrogyria, Cryptorchidism, Hypospadias ORPHA:457485
Meacham Syndrome
Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho... ORPHA:3097
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Anterior pituitary hypoplasia, Abnorm... ORPHA:3157
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Unilateral renal agenesis, Vesicoureteral reflux, Cryptorchidism, Micropenis OMIM:619951
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hypospadias OMIM:601499
Fanconi Anemia, Complementation Group P
Pelvic kidney, Cryptorchidism, Horseshoe kidney OMIM:613951
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Hypogonadism ORPHA:178303
Dowling-Degos Disease
Penile freckling, Scrotal hyperpigmentation ORPHA:79145
Silver-Russell Syndrome
Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Decreased t... ORPHA:813
Buratti-Harel Syndrome
Cryptorchidism, Hypospadias OMIM:619314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Type II lissencephaly, Gray matter heterotopia, Decreased testicula... OMIM:615287
Macrocephaly/Autism Syndrome
Penile freckling, Hydrocele testis OMIM:605309
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Cryptorchidism, Hypospadias OMIM:603736
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Cryptorchidism, Horseshoe... ORPHA:2953
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Proximal renal tubular acidosis OMIM:615824
Crane-Heise Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1512
Ruvalcaba Syndrome
Delayed puberty, Cryptorchidism, Hematuria, Abnormal localization of kidney ORPHA:3121
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyr... ORPHA:739
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydronephrosis ORPHA:2839
Osteoglosphonic Dysplasia
Cryptorchidism ORPHA:2645
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Small pituitary gland, Hypoplastic labia minora,... ORPHA:398069
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Cryptorchidism, Hydronephrosis OMIM:617557
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydronephrosis, Vesicoureteral reflux ORPHA:250989
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Anterior pituitary hypo... ORPHA:464306
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Cryptorchidism, Renal insufficiency, Proteinuria ORPHA:1307
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Ambiguous genitalia, Cryptorchidism, Hypoplastic labia majora ORPHA:1300
Myhre Syndrome
Epispadias, External genital hypoplasia, Hypospadias, Cryptorchidism, Precocious puberty, Hypogon... ORPHA:2588
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Shawl scrotum, Cryptorchidism, Micropenis, Hypospadias OMIM:600460
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Gray matter heterotopia, Hydronephrosi... OMIM:610443
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Bifid scrotum, Hypospadias, Supernumerary nipple ORPHA:217346
Opitz Gbbb Syndrome
Hypospadias, Thyroglossal cyst, Vesicoureteral reflux, Bifid scrotum, Bicornuate uterus, Hydronep... ORPHA:2745
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cryptorchidism ORPHA:2063
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Absent gallbladder, Cryptorchidism, Micropenis ORPHA:163979
Ring Chromosome 12 Syndrome
Breast hypoplasia, Glandular hypospadias, Cryptorchidism, Hypothyroidism, Uterine leiomyoma ORPHA:1439
Tyshchenko Syndrome
Cryptorchidism, Supernumerary nipple OMIM:615102
Campomelic Dysplasia
Ambiguous genitalia, Hydronephrosis, Male pseudohermaphroditism ORPHA:140
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Labial hypoplasia, Precocious puberty, Cryptorchidism, Micropenis OMIM:620073
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Cryptorchidism ORPHA:96184
Auriculocondylar Syndrome 2B
Long penis OMIM:620458
Fanconi Anemia, Complementation Group E
Ectopic kidney, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Cry... OMIM:600901
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Congenital hypoparathyroidism, Micropenis,... OMIM:241410
Bardet-Biedl Syndrome 20
Male hypogonadism, Micropenis, Proteinuria, Bilateral cryptorchidism OMIM:619471
Walker-Warburg Syndrome
Abnormal cortical gyration, Hypoplasia of penis, Polymicrogyria, Abnormality of neuronal migratio... ORPHA:899
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia OMIM:614813
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism OMIM:616789
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, External genital hypoplasia, Hypogonadism, Hypoplasia of penis ORPHA:2250
Czeizel-Losonci Syndrome
Congenital megaureter, Hypoplastic nipples, Ureteral agenesis, Hydronephrosis, Abnormality of the... ORPHA:2437
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis OMIM:619847
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Urinary incontinence ORPHA:169189
Congenital Multicore Myopathy With External Ophthalmoplegia
Small scrotum, Cryptorchidism, Micropenis ORPHA:98905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Vesicoureteral reflux, Gray matter heterotopia, Hypothyroidism, Hydr... ORPHA:453499
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Kleefstra Syndrome 1
Abnormal renal morphology, Cryptorchidism, Micropenis, Hypospadias OMIM:610253
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Cryptorchidism, Hypospadias, Abnormal morphology of female internal ge... ORPHA:2311
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Prostatitis, Urethritis, Renal interstitial immunoglobulin ... ORPHA:449395
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism OMIM:620365
Robinow Syndrome
External genital hypoplasia, Multicystic kidney dysplasia, Clitoral hypoplasia, Decreased serum t... ORPHA:97360
Scarf Syndrome
Hypoplastic nipples, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis OMIM:312830
Bardet-Biedl Syndrome
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... ORPHA:110
Progressive Supranuclear Palsy
Falls, Impulsivity, Abnormal synaptic transmission, Unsteady gait, Dysphagia ORPHA:683
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Waardenburg Syndrome, Type 4C
Cryptorchidism, Lacrimal gland hypoplasia, Hypogonadism OMIM:613266
Autosomal Recessive Omodysplasia
Cryptorchidism ORPHA:93329
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Cryptorchidism, Hydronephrosis ORPHA:444072
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pelvic kidney, Vesicoureteral reflux, Micr... OMIM:603467
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Cryptorchidism, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Erdheim-Chester Disease
Diabetes insipidus, Dysuria, Hydronephrosis, Renal insufficiency, Hypogonadotropic hypogonadism ORPHA:35687
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Hypothyroidism, Renal hypoplasia, Diabetes mellitus, S... OMIM:616541
Donohue Syndrome
Clitoral hypertrophy, Hyperinsulinemia, Long penis, Precocious puberty, Ovarian cyst, Pancreatic ... OMIM:246200
Marden-Walker Syndrome
Renal hypoplasia, Cryptorchidism, Micropenis, Hypospadias OMIM:248700
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism OMIM:301039
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Focal polymicrogyria, Adrenal hypoplasia, Microphallus, Hyperechoge... OMIM:612651
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Fryns Syndrome
Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, Renal agenesis, ... OMIM:229850
Oculoskeletodental Syndrome
Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Hypothyroidism, Cryptorchidism OMIM:618440
Pseudotrisomy 13 Syndrome
Polymicrogyria, Adrenal hypoplasia, Bicornuate uterus, Renal agenesis, Renal hypoplasia, Cryptorc... OMIM:264480
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... ORPHA:79403
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypop... OMIM:603457
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Male pseudohermaphroditism, Shawl scrotum, Cryptorchidism, Micropenis ORPHA:2282
Tetrasomy 9P
Recurrent urinary tract infections, Polymicrogyria, Renal dysplasia, Oligozoospermia, Infertility... ORPHA:3310
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Enuresis, Aplasia/hypoplasia of the uterus, Hydronephrosi... ORPHA:96121
Orofacial Cleft 15
Cryptorchidism OMIM:616788
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Hydronephrosis, Moderate albuminuria OMIM:619269
Developmental And Epileptic Encephalopathy 111
Polymicrogyria, Cryptorchidism, Nephrolithiasis OMIM:620504
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Phakomatosis Pigmentokeratotica
Pheochromocytoma, Renal transitional cell carcinoma, Precocious puberty, Nephroblastoma, Cryptorc... ORPHA:2874
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism ORPHA:90322
Trisomy 8P
Annular pancreas, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Cryptorchidism, Micropenis... ORPHA:264450
Hatipoglu Immunodeficiency Syndrome
Cryptorchidism, Hypospadias OMIM:620331
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Periventricular nodular heterotopia OMIM:619135
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Vesicoureteral reflux, Abnormal testis morphology, Cryptorchidism, Renal ins... ORPHA:96147
Toriello-Lacassie-Droste Syndrome
Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Abnormal penis mo... ORPHA:3339
Distal Deletion 12Q
Annular pancreas, Maturity-onset diabetes of the young, Ectopic kidney, Polycystic kidney dysplas... ORPHA:96149
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Splen... OMIM:269150
Sanjad-Sakati Syndrome
Cryptorchidism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis ORPHA:2323
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Hypospadias, Cholelithiasis ORPHA:464738
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis ORPHA:139471
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias ORPHA:1786
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism OMIM:608093
Distal Duplication 5Q
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
13Q12.3 Microdeletion Syndrome
Cryptorchidism ORPHA:412035
Opitz Gbbb Syndrome
Rectourethral fistula, Hypospadias, Vesicoureteral reflux, Congenital posterior urethral valve, C... OMIM:300000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Cryptorchidism OMIM:612938
Meier-Gorlin Syndrome 5
Cryptorchidism, Micropenis OMIM:613805
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasi... ORPHA:2166
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Pelvic kidney, Imperforate hymen, Hematocolpos, Enuresis, Grad... OMIM:619522
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Cryptorchidism, Micropenis OMIM:614969
Au-Kline Syndrome
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Chronic kidney disease, Dilatation of the ... OMIM:616580
Arthrogryposis, Distal, Type 12
Cryptorchidism, Hydrocele testis OMIM:620545
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Micropenis, Hypogonadism ORPHA:500055
Postaxial Acrofacial Dysostosis
Abnormality of the kidney, Cryptorchidism, Micropenis, Supernumerary nipple OMIM:263750
Seckel Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Hypospadias, Pachygyria OMIM:210600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... OMIM:608836
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Horseshoe kidney, Renal cyst, Abnormality of the endocrine system ORPHA:166035
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Simplified gyral pattern OMIM:619244
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Polymicrogyria, Hydronephrosis ORPHA:488613
Cog5-Cdg
Neurogenic bladder, Cryptorchidism, Micropenis, Urinary incontinence ORPHA:263487
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Nephroblastoma, Ambiguous g... OMIM:257300
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Precocious puberty, Varicocele, Dilatation ... ORPHA:2044
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Cryptorchidism, Supernumerary nipple, Hypoplasia of penis ORPHA:1812
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Cryptorchidism, Micropenis, Hypospadias OMIM:607143
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Papillary cystadenoma of the ep... OMIM:193300
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collecting system, Bi... OMIM:270400
Dubowitz Syndrome
Abnormal female external genitalia morphology, Hypoparathyroidism, Hypospadias, Hydronephrosis, C... ORPHA:235
Van Maldergem Syndrome 2
Hypospadias, Hypoplastic nipples, Bifid scrotum, Gray matter heterotopia, Renal hypoplasia, Periv... OMIM:615546
Fetal Akinesia Deformation Sequence
Cryptorchidism ORPHA:994
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Cousin Syndrome
Ambiguous genitalia, male, Hydronephrosis, Ambiguous genitalia, female OMIM:260660
Meier-Gorlin Syndrome 4
Breast hypoplasia, Cryptorchidism OMIM:613804
Trisomy 18
Abnormality of the upper urinary tract, Cryptorchidism, Abnormal morphology of female internal ge... ORPHA:3380
Tarp Syndrome
Cryptorchidism, Horseshoe kidney, Hydronephrosis ORPHA:2886
Genitopatellar Syndrome
Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Labial hypoplasia, Hyp... OMIM:606170
Beckwith-Wiedemann Syndrome
Enlarged kidney, Adrenocortical carcinoma, Renal cortical cysts, Vesicoureteral reflux, Nephrolit... OMIM:130650
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology ORPHA:2189
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Cryptorchidism, Hyperu... OMIM:300661
Microcephaly, Epilepsy, And Diabetes Syndrome 1
External genital hypoplasia, Diabetes mellitus, Simplified gyral pattern, Hypogonadism, Small scr... OMIM:614231
Ellis-Van Creveld Syndrome
Epispadias, Cryptorchidism, Hypospadias OMIM:225500
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Recurrent urinary tract infection... ORPHA:125
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Hypoplasia of the thymus, Cryptorchidism, Hydronephrosis, Ura... OMIM:612541
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Flat Face-Microstomia-Ear Anomaly Syndrome
Small scrotum, Cryptorchidism ORPHA:1968
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Polycystic kidney dysplasia, Hypoplasia of the thymus, Cryptorchidism, Amin... OMIM:214110
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Simplified gyral pattern, Pachygyria OMIM:619179
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydronephrosis ORPHA:1340
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Polymicrogyria, Urogenital sinus anomaly, ... OMIM:618820
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Fanconi Anemia, Complementation Group D2
Annular pancreas, Ectopic kidney, Duplicated collecting system, Pelvic kidney, Hypergonadotropic ... OMIM:227646
Thakker-Donnai Syndrome
Hydronephrosis, Rectovaginal fistula ORPHA:1780
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas... OMIM:176270
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis... ORPHA:373
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren... ORPHA:158684
Fanconi Anemia, Complementation Group C
Ectopic kidney, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Cry... OMIM:227645
X-Linked Mandibulofacial Dysostosis
Cryptorchidism ORPHA:1131
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Acrocardiofacial Syndrome
Hyperthyroidism, Cryptorchidism, Hypospadias, Hypoplasia of penis ORPHA:2008
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Nephrocalcinosis, Hydronephrosis, Congenital post... OMIM:136140
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism OMIM:224410
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Abnormal cortical gyration, Unilateral breast hypoplasia, Hydr... OMIM:300968
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Hydronephrosis, Hypospadias ORPHA:90652
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Chordee, Cryptorchidism, Supernumerary nipple OMIM:616728
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Hypoplasia of penis, Hydronephrosis, Cryptorchidism, Multi... ORPHA:1507
Eec Syndrome
Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Hypospadias, Ant... ORPHA:1896
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Absent nipple, Hydronephrosis OMIM:104350
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:101800
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:284160
Apert Syndrome
Cryptorchidism, Hydronephrosis, Vaginal atresia OMIM:101200
X-Linked Intellectual Disability, Snyder Type
Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy ORPHA:3063
Robinow Syndrome, Autosomal Recessive 1
Hypospadias, Hypoplastic labia minora, Nephrolithiasis, Clitoral hypoplasia, Hydronephrosis, Rena... OMIM:268310
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydronephrosis,... ORPHA:818
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Bifid scrotum, Prominent scrotal raphe ORPHA:1555
Leopard Syndrome 1
Delayed puberty, Hypospadias, Unilateral renal agenesis, Hypoplasia of the ovary, Delayed menarch... OMIM:151100
Granulomatosis With Polyangiitis
Glomerulopathy, Prostatitis, Hematuria, Diabetes insipidus, Ureteral stenosis, Abnormality of the... ORPHA:900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Frontal polymicrogyria, Gray matter heterotopia, Pachygyria, Cryptorch... OMIM:620024
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Meier-Gorlin Syndrome 3
Breast hypoplasia, Clitoral hypertrophy, Hypospadias, Hypoplastic labia minora, Small scrotum, Cr... OMIM:613803
Alagille Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Cryptor... ORPHA:52
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ... ORPHA:280633
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr... ORPHA:93271
Alg9-Cdg
Enlarged kidney, Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus, Abnormal renal ... ORPHA:79328
1P36 Deletion Syndrome
Abnormality of the kidney, Abnormal female external genitalia morphology, Annular pancreas, Hypos... ORPHA:1606
Recombinant 8 Syndrome
Small scrotum, Abnormality of the kidney, Hypoplastic male external genitalia, Cryptorchidism ORPHA:96167
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis, Supernumerary nipple ORPHA:247262
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Decreased fertility, Hypospadias, Abnormal localization of kidney ORPHA:500
Charge Syndrome
Delayed puberty, Abnormality of the adrenal glands, Horseshoe kidney, Anterior hypopituitarism, L... ORPHA:138
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Hypospadias, Testicular neoplasm, Recurren... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Testicular neoplasm, Recurren... ORPHA:363958
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Hydronephrosis, Cryptorchidism, Micro... ORPHA:83617
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Abnormal preputium morphology ORPHA:293725
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Micropenis OMIM:614230
Vater/Vacterl Association
Ectopic kidney, Hypospadias, Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Ureteropelvic... OMIM:192350
Microphthalmia, Syndromic 3
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonadotropic hypogona... OMIM:206900
Jacobsen Syndrome
Annular pancreas, Hydronephrosis, Pachygyria, Cryptorchidism, Multicystic kidney dysplasia ORPHA:2308
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Hypospadias, Precocious puberty, Premature... ORPHA:96182
Perlman Syndrome
Nephroblastomatosis, Renal hamartoma, Nephrogenic rest, Nephroblastoma, Cryptorchidism, Pancreati... OMIM:267000
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, External genital hypoplasia, Hypospadias, Cryptorchidism, Hypogonadism, Abnormal peni... ORPHA:2658
Miller-Dieker Lissencephaly Syndrome
Pelvic kidney, Agyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Cryptorchidism OMIM:247200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal renal collecting system morphology, Hypospadias, Unilateral renal agenesis, Pelvic kidne... ORPHA:468631
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
3-Methylglutaconic aciduria, Cryptorchidism, Hypospadias OMIM:614052
ERI1-related disease
Hydronephrosis, Vesicoureteral reflux OMIM:608739
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:289
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Gray matter heterotopia, Hypothyroidism, Hydronephrosis, Cryptorchidism, S... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Gray matter heterotopia, Hypothyroidism, Hydronephrosis, Cryptorchidism, S... ORPHA:352665
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Hypothyroidism, Renal d... OMIM:618183
3Mc Syndrome 2
Cryptorchidism, Horseshoe kidney, Hypospadias OMIM:265050
9Q33.3Q34.11 Microdeletion Syndrome
Small scrotum, Abnormality of the kidney, Cryptorchidism, Micropenis ORPHA:495818
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Breast hypoplasia, Shawl scrotum, Cryptorchidism OMIM:601353
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Polymicrogyria, Abnormality of the upper urinary tract, Hydronephrosis, Pachygyria, ... ORPHA:2995
Kabuki Syndrome 1
Anoperineal fistula, Premature thelarche, Congenital hypothyroidism, Hydronephrosis, Ureteropelvi... OMIM:147920
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Type II diabetes mellitus, Azoospermia OMIM:210900
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hydronephrosis, Hypospadias, Abnormality of the endocrine system ORPHA:487796
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism OMIM:619123
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Chordee, Cryptorchidism, Supernumerary nipple, Hypospadias ORPHA:477993
White-Kernohan Syndrome
Hydroureter, Rectovaginal fistula, Hypothyroidism, Hydronephrosis, Horseshoe kidney OMIM:619426
Smooth Muscle Dysfunction Syndrome
Dysgyria, Cryptorchidism OMIM:613834
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Central hy... ORPHA:798
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux OMIM:620662
Duane-Radial Ray Syndrome
Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, Hydronephrosis, Crossed fused renal ecto... OMIM:607323
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Diabetes mellitus, Hydronephrosis, Duplicated collecting system ORPHA:541423
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Abnormal cortical gyration, Hypospadias, Abnormal vagina morphology, Gr... OMIM:236680
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Hypoplastic nipples, Ureteropelvic junction obstruction, Hydronephr... OMIM:280000
Neurooculorenal Syndrome
Unilateral renal agenesis, Decreased circulating ACTH concentration, Polymicrogyria, Bilateral re... OMIM:620305
Ear-Patella-Short Stature Syndrome
Epispadias, Clitoral hypertrophy, Hypospadias, Hypoplasia of penis, Breast aplasia, Hypoplastic l... ORPHA:2554
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Robinow Syndrome, Autosomal Dominant 1
Clitoral hypoplasia, Hydronephrosis, Renal duplication, Cryptorchidism, Micropenis, Hypoplastic l... OMIM:180700
Fanconi Anemia
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnormal preputium morphology, Azoospermia, A... ORPHA:84
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality of the hypotha... ORPHA:264200
Hartsfield Syndrome
Hypospadias, Diabetes insipidus, Gonadotropin deficiency, Cryptorchidism, Micropenis OMIM:615465
Neurofaciodigitorenal Syndrome
Cryptorchidism, Unilateral renal agenesis ORPHA:2673
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Gabriele-De Vries Syndrome
Breast hypoplasia, Decreased response to growth hormone stimulation test, Hypothyroidism, Hydrone... ORPHA:506358
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... OMIM:618280
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Hydronephrosis ORPHA:210122
Chromosome 15Q25 Deletion Syndrome
Dilatation of renal calices, Cryptorchidism OMIM:614294
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasting hyperinsulinemia, P... ORPHA:769
Pfeiffer Syndrome Type 3
Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux ORPHA:93260
Peters Plus Syndrome
Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Anterior hypopituitarism, Multicysti... ORPHA:709
Charge Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas... OMIM:214800
Vacterl With Hydrocephalus
Renal hypoplasia/aplasia, Renal agenesis, Cryptorchidism, Abnormal fallopian tube morphology ORPHA:3412
15Q Overgrowth Syndrome
Abnormal renal morphology, Hydronephrosis, Nephroblastoma, Ureterovesical stenosis, Horseshoe kidney ORPHA:314585
Larsen Syndrome
Cryptorchidism ORPHA:503
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Polymicrogyria, Hypoplastic male external genitalia, Type II lissencephaly, Agyria, Pachygyria, R... OMIM:236670
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Feingold Syndrome Type 1
Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Renal dysplasia, Ren... ORPHA:391641
Laurin-Sandrow Syndrome
Cryptorchidism ORPHA:2378
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the kidney, Abnormal circulating calcium-phosphate regulating hormone concentratio... ORPHA:2636
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis, Abnormality of the ureter ORPHA:1225
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Hydronephrosis, Decreased serum insulin-like growth factor 1 OMIM:614921
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Hypospadias, Breast aplasia, Vesicoureteral reflux, Urethral stricture, Cry... OMIM:617063
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Cryptorchidism, Hydronephrosis OMIM:601776
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Hydronep... ORPHA:353281
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Renal cyst, Crypt... ORPHA:495875
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Hypoplasia of the thymus, Hypothyroidism, Parathyroid ... OMIM:188400
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Cryptorchidism, Urethral stenosis OMIM:613990
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Abnormal salivary gland morphology, Vesicoureteral reflux, Bicornuate ute... ORPHA:2363
Meier-Gorlin Syndrome 6
Delayed puberty, Decreased response to growth hormone stimulation test, Simplified gyral pattern,... OMIM:616835
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic endocrine tumor, Adren... ORPHA:892
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Vesicoureteral reflux, Nephrolithiasis, Precocious puberty, ... ORPHA:438213
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hydronephrosis, Vesicoureteral reflux OMIM:620663
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias OMIM:618846
Sotos Syndrome
Decreased fertility, Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesi... ORPHA:821
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Hydroureter, Hypospadias, Dilatation of the bladder, Bicornuate uterus, Hydrone... OMIM:265380
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis OMIM:608779
Faciodigitogenital Syndrome, Autosomal Recessive
Shawl scrotum, Pollakisuria, Cryptorchidism OMIM:227330
Congenital Myopathy 17
Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction OMIM:618975
Cowden Syndrome
Abnormality of the kidney, Adenoma sebaceum, Neoplasm of the thyroid gland, Abnormal penis morpho... ORPHA:201
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis OMIM:618460
Rubinstein-Taybi Syndrome 1
Hypospadias, Bilateral cryptorchidism, Premature thelarche, Papillary cystadenoma of the epididym... OMIM:180849
Cat Eye Syndrome
Renal agenesis, Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux OMIM:115470
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hydronephrosis OMIM:251260
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Increased serum testosterone ... ORPHA:3455
Autosomal Dominant Robinow Syndrome
Epispadias, Hypospadias, Abnormal penis morphology, Hypoplasia of penis, Hypoplastic labia minora... ORPHA:3107
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Hydronephrosis, Thyroid hypoplasia, Unilateral renal agenesis OMIM:308050
Acromegaly
Anterior hypopituitarism, Long penis, Abnormality of the endocrine system, Dysuria, Pituitary gro... ORPHA:963
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hydroureter, Hypospadias, Ectopic kidney, Aplasia of the uterus, Renal hypo... OMIM:135900
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis ORPHA:2092
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Male pseudohermaphroditi... ORPHA:564
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Aminoaciduria OMIM:617913
Teebi-Shaltout Syndrome
Hydronephrosis, Horseshoe kidney, Ureteral stenosis OMIM:272950
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Hydronephrosis, Bilateral cryptorchidism OMIM:616268
Intellectual Developmental Disorder, Autosomal Dominant 42
Polymicrogyria, Neurogenic bladder, Congenital hypothyroidism, Ureteropelvic junction obstruction... OMIM:616973
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Enlarged labia minora, Maternal diabetes, Polycystic kidney dysplasia, Abno... ORPHA:3404
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Leprechaunism
Clitoral hypertrophy, Enlarged kidney, Hyperinsulinemia, Long penis, Hypercalciuria, Increased ci... ORPHA:508
Focal Dermal Hypoplasia
Ureteral duplication, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplasia, Hydronephrosis... OMIM:305600
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology, Abnormal testi... ORPHA:2556
Visceral Myopathy 1
Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis OMIM:155310
Cardiofaciocutaneous Syndrome 1
Hydronephrosis OMIM:115150
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Hydronephrosis ORPHA:101000
Mosaic Trisomy 20
Abnormality of the kidney, Cryptorchidism, Horseshoe kidney ORPHA:1724
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Multiple bladder diverticula, Hypoplasia of the thymus, Hydronephrosis OMIM:613177
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:613884
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Primary hypothyroidism, Hypoplastic nipp... OMIM:243800
Townes-Brocks Syndrome
Delayed puberty, Abnormality of the kidney, Hypospadias, Rectovaginal fistula, Hypoplasia of peni... ORPHA:857
Campomelic Dysplasia
Hydronephrosis, Hypospadias, Sex reversal OMIM:114290
Specc1L-Related Hypertelorism Syndrome
Female pseudohermaphroditism, Shawl scrotum, Cryptorchidism, Ectopic kidney ORPHA:1519
Dyskeratosis Congenita, X-Linked
Hypospadias, Phimosis, Decreased testicular size, Urethral stenosis, Cryptorchidism, Horseshoe ki... OMIM:305000
3Mc Syndrome 1
Hydronephrosis, Supernumerary nipple OMIM:257920
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, C... ORPHA:2273
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Holoprosencephaly 3
Central diabetes insipidus, Hydronephrosis OMIM:142945
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux... ORPHA:353277
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pel... ORPHA:261537
Doors Syndrome
Polymicrogyria, Congenital hypothyroidism, Adrenal hyperplasia, Hydronephrosis, Nephrocalcinosis,... ORPHA:79500
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Cryptorchidism, Labial hypertrophy, Neonatal insulin-dependent diabetes mellitus ORPHA:96191
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Renal hypoplasia, H... OMIM:261540
Mowat-Wilson Syndrome
Abnormality of the kidney, Periventricular heterotopia, Urinary incontinence, Hypospadias, Multic... ORPHA:2152
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinuria, Pancreatic cysts ORPHA:2750
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism ORPHA:1101
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Increased urinary glycerol, Cryptorchidism, Adrenal insufficiency OMIM:307030
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Uri... ORPHA:90324
Liver Disease, Severe Congenital
Hypospadias, Recurrent urinary tract infections, Pancreatic hypoplasia, Alpha-aminobutyric acidur... OMIM:619991
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... ORPHA:273
Hardikar Syndrome
Decreased serum insulin-like growth factor 1, Hydroureter, Recurrent urinary tract infections, Ve... OMIM:301068
Double Outlet Left Ventricle
Cryptorchidism ORPHA:3427
Raine Syndrome
Hydronephrosis, Hydroureter OMIM:259775
Osteopetrosis With Renal Tubular Acidosis
Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal renal tubular acidosis, Distal ... ORPHA:2785
Orofaciodigital Syndrome Xiv
Epispadias, Polymicrogyria, Simplified gyral pattern, Cryptorchidism, Micropenis, Unilateral rena... OMIM:615948
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Cryptorchidism, Rectoperineal fistula OMIM:618748
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Recurrent cystitis, ... ORPHA:64
Poland Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Urete... ORPHA:2911
Okamoto Syndrome
Urinary incontinence, Ureteropelvic junction obstruction, Bifid uterus, Hydronephrosis, Unilatera... ORPHA:2729
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hypospadias, Renal cyst, Hydronephrosis, Nephroblastoma, Duplication of renal pe... OMIM:312870
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hypospadias, Hydronephrosis OMIM:304120
Fraser Syndrome 1
Clitoral hypertrophy, Renal hypoplasia/aplasia, Abnormal cortical gyration, Hypospadias, Bicornua... OMIM:219000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Urinary incontinence, Hypospadias, Duplication of renal pelvis, Mult... ORPHA:261552
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Organic aciduria, Aminoaciduria, Galactosuria ORPHA:85276
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Hydronephrosis OMIM:620330
Pallister-Hall Syndrome
Ectopic kidney, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo... ORPHA:672
Knobloch Syndrome 1
Duplicated collecting system, Polymicrogyria, Renal duplication, Hydronephrosis, Bifid ureter OMIM:267750
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Ileal Neuroendocrine Tumor
Hydronephrosis, Increased serum serotonin, Small intestine carcinoid ORPHA:100078
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Vesicoureteral reflux, Decreased testicular size, Renal hypoplasia, Hypogonadism, Sm... OMIM:309580
Fraser Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuat... ORPHA:2052
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Proteinuria OMIM:616682
Schneckenbecken Dysplasia
Cryptorchidism ORPHA:3144
Frontometaphyseal Dysplasia
Ureteral obstruction, Hydronephrosis, Urethral stenosis ORPHA:1826
Acrofacial Dysostosis, Cincinnati Type
Cryptorchidism, Hydronephrosis, Bilateral cryptorchidism OMIM:616462
Tibial Hemimelia
Ambiguous genitalia, Cryptorchidism, Hypospadias ORPHA:93322
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder diverticulum OMIM:304150
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hyperphosphaturia, Renal Fanconi syndrome, Prox... OMIM:309000
Treacher Collins Syndrome 1
Abnormal parotid gland morphology, Cryptorchidism OMIM:154500
Chime Syndrome
Abnormality of the kidney, Hydronephrosis ORPHA:3474
Melnick-Needles Syndrome
Hydronephrosis, Ureteral stenosis OMIM:309350
Microphthalmia, Syndromic 6
Anterior hypopituitarism, Adrenal hypoplasia, Female hypogonadism, Abnormality of the hypothalamu... OMIM:607932
Monosomy 22Q13.3
Renal dysplasia, Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux ORPHA:48652
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Abnormal cortical gyration, Cyst of the ductus choledochus, Hypoplastic nipples,... ORPHA:480880
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Urethral diverticulum OMIM:212093
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Vaginal stricture, Renal tubular epithelial necrosis, Vaginal dryness, Hemat... ORPHA:95455
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Medullary nephrocalcinosis, Bile duct prolifer... OMIM:619534
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:363700
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
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
Kctd13em2(IMPC)Ics Deletion Mice
Kctd13tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Kctd13tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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