banner
Genes Phenotypes Help, News, Blog

Gene: Dhh MGI:94891

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
desert hedgehog
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dhh 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.

The table below shows human diseases associated to Dhh by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 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 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
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
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, High palate OMIM:300428
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype OMIM:305700
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis ORPHA:85274
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Partington Syndrome
Macroorchidism ORPHA:94083
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Gemignani Syndrome
Hypoplasia of penis, Abnormal testis morphology, Delayed puberty ORPHA:2074
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Hao-Fountain Syndrome
Cryptorchidism, Micropenis, Premature adrenarche OMIM:616863
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Cleft palate, Gonadal dysgenesis, male ORPHA:2075
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Denys-Drash Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism ORPHA:220
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:261483
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Gordon Syndrome
Cryptorchidism, High palate, Cleft palate ORPHA:376
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p... OMIM:305400
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Currarino Syndrome
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m... ORPHA:1552
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1621
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Image Syndrome
Hypogonadism, Cryptorchidism, Hypospadias, Adrenal hypoplasia ORPHA:85173
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia OMIM:615982
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... ORPHA:3363
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Clark-Baraitser syndrome
Macroorchidism, Exaggerated median tongue furrow OMIM:300602
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis OMIM:300982
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Cleft palate OMIM:612370
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm, Hypohidrosis OMIM:308100
Mmep Syndrome
Cryptorchidism ORPHA:3434
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cleft soft palate, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Submuc... ORPHA:2282
Fragile X Syndrome
Macroorchidism ORPHA:908
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... OMIM:614880
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism OMIM:618286
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism OMIM:250951
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism OMIM:616681
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Micropenis ORPHA:85282
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, High palate, Small pituitary g... OMIM:612702
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Micropenis, Infertility ORPHA:261524
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
Lujan-Fryns Syndrome
Macroorchidism, High palate ORPHA:776
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... ORPHA:649929
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia ORPHA:363741
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Cryptorchidism, Male pseudoherma... ORPHA:847
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism OMIM:617564
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias, Anal atresia ORPHA:1381
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, High palate, Polycystic ovaries ORPHA:284180
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Branchial Arch Syndrome, X-Linked
Cryptorchidism, High palate, High, narrow palate OMIM:301950
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Alazami-Yuan Syndrome
Cryptorchidism, High palate OMIM:617126
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
Recessive X-Linked Ichthyosis
Cryptorchidism, Hypohidrosis ORPHA:461
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:1027
Non-Distal Duplication 10Q
Cryptorchidism, High palate ORPHA:1695
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, High palate, Primary amenorrhea OMIM:233400
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, High palate OMIM:300055
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Micropenis, Hypospadias OMIM:612626
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, High palate, Cleft palate OMIM:618388
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... ORPHA:95699
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370921
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis OMIM:613861
Chondrodysplasia-Difference Of Sex Development Syndrome
Male pseudohermaphroditism ORPHA:1422
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Micropenis OMIM:619180
Coffin-Siris Syndrome 8
Cryptorchidism OMIM:618362
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism OMIM:618766
Maternal Uniparental Disomy Of Chromosome 6
Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasi... ORPHA:96181
X-Linked Intellectual Disability, Abidi Type
Decreased testicular size, Cleft palate ORPHA:85273
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... ORPHA:456328
Nivelon-Nivelon-Mabille Syndrome
Male pseudohermaphroditism OMIM:600092
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, High palate OMIM:618393
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Intestinal malrotation, Cleft palate OMIM:615524
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal testis morphology, Hypogonadism, Decreased fertility ORPHA:2233
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, High, narrow palate OMIM:273390
Intellectual Disability, Wolff Type
Cryptorchidism, Hypospadias, Abnormal intestine morphology ORPHA:3080
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism ORPHA:2958
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Type I... ORPHA:254516
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch... OMIM:614732
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:3459
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Micropenis, Delayed puberty, Hypoplasia of the prostate OMIM:301900
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Ectopic anus, High palate ORPHA:1703
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Ventral shortening of foreski... ORPHA:95706
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft lip and palate, High palate, Macroorchidism, Ankyloglossia OMIM:618874
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma OMIM:619908
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation OMIM:601163
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias OMIM:618815
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum OMIM:615597
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Prieto Syndrome
Cryptorchidism OMIM:309610
Congenital Myopathy 9A
Cryptorchidism OMIM:618822
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:319332
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, High palate, Anterior hypopituitarism, Anal atresia ORPHA:2863
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate, Primary amenorrhea, Micropenis OMIM:244200
Laurence-Moon Syndrome
Cryptorchidism, Hypoplasia of penis, Type II diabetes mellitus, Displacement of the urethral meatus ORPHA:2377
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Protruding tongue ORPHA:324410
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Microphthalmia, Syndromic 8
Cryptorchidism, Cleft palate OMIM:601349
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Hypohidrosis, Hypogonadism, Testicular seminoma ORPHA:281090
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Clef... OMIM:615849
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism OMIM:619189
Crandall Syndrome
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism ORPHA:202
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Anal atresia, Supernumerary nipple OMIM:619243
Meckel Syndrome
True hermaphroditism, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Pancreatic cysts, Cr... ORPHA:564
Autosomal Dominant Omodysplasia
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia ORPHA:93328
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Arthrogryposis, Distal, Type 1C
Cryptorchidism, High palate, Bifid uvula, Cleft palate OMIM:619110
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decreased fertility, Hypogo... ORPHA:2234
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias OMIM:620135
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, High palate, Decreased testicular size ORPHA:85279
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, Hamartoma of tongue ORPHA:1338
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Cryptorchidism OMIM:618786
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, High palate, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism OMIM:604317
Neurofibromatosis-Noonan Syndrome
Cryptorchidism ORPHA:638
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:2772
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis OMIM:620071
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Oral leukoplakia OMIM:618165
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, High palate ORPHA:178148
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Cleft palate ORPHA:140
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism OMIM:615633
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis OMIM:300406
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate ORPHA:314575
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Cleft palate OMIM:614838
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis OMIM:618504
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Cryptorchidism ORPHA:1192
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Intestinal duplication, Uterus didelphys ORPHA:1756
Wt Limb-Blood Syndrome
Cryptorchidism OMIM:194350
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism OMIM:613730
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Fanconi Anemia, Complementation Group O
Cryptorchidism, Rectal atresia, External genital hypoplasia, Anal atresia OMIM:613390
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Perianal abscess, Cryptorchidism, Micropenis OMIM:614684
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... OMIM:608800
Urofacial Syndrome 1
Cryptorchidism OMIM:236730
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, High palate, Hypogonadism ORPHA:85323
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, High palate, Hypogonadotropic hypogonadism, Furrowed tongue ORPHA:1387
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Ambiguou... ORPHA:452
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia OMIM:613987
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism ORPHA:466926
Oculocerebrocutaneous Syndrome
Cryptorchidism, Cleft palate OMIM:164180
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Distal Duplication 15Q
Cryptorchidism, High palate, Abnormality of female external genitalia, Anal atresia ORPHA:1707
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism ORPHA:85322
Perlman Syndrome
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Hyperinsulinemia, Abnormal pancreas mor... ORPHA:2849
Congenital Myopathy 19
Cryptorchidism, High palate OMIM:618578
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate, Primary amenorrhea, Delayed puberty,... OMIM:147950
Abruzzo-Erickson Syndrome
Cryptorchidism, Hypospadias, Coronal hypospadias, Cleft palate ORPHA:921
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cryptorchidism, Micropenis ORPHA:370968
Lymphatic Malformation 4
Hydrocele testis OMIM:615907
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Shawl scrotum ORPHA:2256
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Abnormal rectum m... ORPHA:2556
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus, Anal atresia ORPHA:1580
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples OMIM:616001
Rahman Syndrome
Cryptorchidism OMIM:617537
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig cells, Testicul... ORPHA:3063
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Anteriorly placed... ORPHA:495875
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, High palate OMIM:611890
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, External genital hypoplasia ORPHA:1867
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Carney Complex
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, A... ORPHA:1359
Ruvalcaba Syndrome
Cryptorchidism, Delayed puberty OMIM:180870
Temple Syndrome
Decreased testicular size, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... OMIM:616222
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... ORPHA:2495
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Cleft palate ORPHA:1166
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, High palate OMIM:309520
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism OMIM:272440
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Cryptorchidism, High palate, Delayed puberty ORPHA:486815
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypoplastic female external genitalia OMIM:618577
Mcdonough Syndrome
Cryptorchidism ORPHA:2471
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Cryptorchidism, Micropenis OMIM:612447
Qazi-Markouizos Syndrome
Cryptorchidism, High, narrow palate ORPHA:3010
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia, Hyperhidrosis ORPHA:2617
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism OMIM:618958
Warburg Micro Syndrome 1
Cryptorchidism, External genital hypoplasia OMIM:600118
Chung-Jansen Syndrome
Cryptorchidism, High palate OMIM:617991
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Pyloric stenosis, Cleft... ORPHA:96184
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Cleft palate OMIM:615502
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism, Cleft palate OMIM:300946
Freeman-Sheldon Syndrome
Cryptorchidism ORPHA:2053
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cryptorchidism, High palate OMIM:620316
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Pyloric stenosis, Hypoplastic labia majora, Hypop... OMIM:618419
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Gonadal dysgenesis, High palate, Hypogonadism ORPHA:3306
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism OMIM:618484
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Distal Monosomy 7Q36
Cryptorchidism, Hypoplasia of penis, Cleft palate ORPHA:1636
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Prune Belly Syndrome
Cryptorchidism, Xerostomia, Anal atresia OMIM:100100
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Cryptorchidism, High, narrow palate, Micropenis, Bifid uvula ORPHA:2872
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru... OMIM:604168
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Supernumerary nipple OMIM:617635
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:127
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland, Cleft palate ORPHA:3429
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Diabetes mellitus OMIM:249270
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:610198
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Small scrotum ORPHA:1970
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Diabetes mellitus, Hypospadias, Congenital hypothyroidism OMIM:614613
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Pituitary Gigantism
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... ORPHA:99725
Weaver Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3447
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism OMIM:619797
Intellectual Developmental Disorder, Autosomal Dominant 51
Cryptorchidism, Unilateral cryptorchidism OMIM:617788
Distal Duplication 18Q
Cryptorchidism, Hypoplasia of penis, High palate, Abnormality of female external genitalia ORPHA:1716
Peroxisome Biogenesis Disorder 14B
Hydrocele testis OMIM:614920
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Macroglossia, Hypogonadism, Delayed puberty, Micropenis, Decreased t... OMIM:300354
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism OMIM:615419
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Cryptorchidism, Micropenis OMIM:613156
Cornelia De Lange Syndrome 5
Cryptorchidism, Cleft palate, High palate, Hypogonadism, Micropenis, Decreased testicular size OMIM:300882
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism ORPHA:589905
Carpenter Syndrome
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia ORPHA:65759
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, External genital hypoplasia, Cryptorch... ORPHA:97360
Chromosome 6Q11-Q14 Deletion Syndrome
Bilateral cryptorchidism, High palate OMIM:613544
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Microphthalmia, Syndromic 5
Cryptorchidism, Micropenis, Cleft palate, Ectopic posterior pituitary OMIM:610125
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis OMIM:618832
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Stankiewicz-Isidor Syndrome
Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Müllerian Aplasia And Hyperandrogenism
Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, A... ORPHA:247768
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, High palate, Cleft palate OMIM:600325
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism OMIM:618060
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus OMIM:300957
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Cleft palate, Abnormality of the scrotu... ORPHA:397590
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism ORPHA:3409
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Cleft palate ORPHA:1252
German Syndrome
Ambiguous genitalia, Cryptorchidism, High palate ORPHA:2077
Pierpont Syndrome
Cryptorchidism ORPHA:487825
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Cleft palate, Azoospermia, I... ORPHA:10
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias, Pyloric stenosis OMIM:218350
Silver-Russell Syndrome 3
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias OMIM:616489
Ochoa Syndrome
Cryptorchidism ORPHA:2704
Prune Belly Syndrome
Intestinal malrotation, Cryptorchidism, Decreased fertility, Abnormality of the uterus, Anal atre... ORPHA:2970
Sim1-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Hypogonadotropic hy... ORPHA:398079
Non-Distal Duplication 13Q
Cryptorchidism, High palate ORPHA:1702
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Tyshchenko Syndrome
Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow palate, Cleft palate, High palate OMIM:615102
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Intestinal malrotation ORPHA:401935
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism ORPHA:137634
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum ORPHA:1778
Rin2 Syndrome
Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, High palate ORPHA:217335
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Tonne-Kalscheuer Syndrome
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Micropenis, Decreased testicular size OMIM:300978
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:228402
Joubert Syndrome 37
Cryptorchidism, Micropenis, High palate, Decreased testicular size OMIM:619185
Trisomy 20P
Macroorchidism, Cryptorchidism, Ectopic anus, Hypospadias ORPHA:261318
Orofacial Cleft 15
Cryptorchidism, Bilateral cleft palate OMIM:616788
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, High palate, Decreased response to growth hormone stimulation test OMIM:609757
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, High palate, Hypospadias OMIM:614541
Seckel Syndrome 5
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy OMIM:613823
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal... ORPHA:3157
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Hypergonadotropic hypogonadism, Cleft palate ORPHA:250999
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Diabetes mellitus, Cryptorchidism OMIM:615381
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism ORPHA:2701
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:2083
Bresek Syndrome
Cryptorchidism, Aganglionic megacolon, Decreased testicular size, Cleft palate ORPHA:85284
Noonan Syndrome 9
Cryptorchidism OMIM:616559
Osteoglosphonic Dysplasia
Cryptorchidism ORPHA:2645
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, High palate, Hypoplastic male external genitalia ORPHA:502434
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
High palate, Unilateral cryptorchidism OMIM:618862
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism OMIM:620365
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Pierpont Syndrome
Cryptorchidism, Micropenis OMIM:602342
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism ORPHA:88639
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Small scrotum, Hypogonadism ORPHA:228390
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Cryptorchidism, High palate, Hypospadias OMIM:300004
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Cleft palate ORPHA:1912
King-Denborough Syndrome
Bilateral cryptorchidism, Cryptorchidism, High palate OMIM:619542
Pagod Syndrome
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... ORPHA:991
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroidism OMIM:617575
Nicolaides-Baraitser Syndrome
Cryptorchidism, Abnormal testis morphology, High, narrow palate ORPHA:3051
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:377
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, High palate ORPHA:1145
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, High palate ORPHA:139471
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... ORPHA:300373
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Hypospadias ORPHA:171839
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism ORPHA:485350
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Trisomy 18P
Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis ORPHA:1715
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, High palate, Hypospadias ORPHA:98791
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism ORPHA:352490
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology ORPHA:531151
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias OMIM:175700
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... OMIM:174800
Chromosome 18P Deletion Syndrome
Cryptorchidism, Gonadal dysgenesis, High palate, Micropenis, Decreased testicular size OMIM:146390
Cree Mental Retardation Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate OMIM:606851
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia, Shawl scrotum ORPHA:261265
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Con... OMIM:618336
Toluene Embryopathy
Cryptorchidism ORPHA:1920
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism OMIM:618652
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypospadias, Hypothyroidism, Cleft palate OMIM:603736
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Lig4 Syndrome
Cryptorchidism, Type II diabetes mellitus, Micropenis, Hypothyroidism, Amenorrhea OMIM:606593
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Hypogonadism ORPHA:178303
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Decreased serum insulin-like growth factor 1 ORPHA:314389
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, La... OMIM:164745
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum ORPHA:2505
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... ORPHA:83628
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Hypospadias ORPHA:1194
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Warburg Micro Syndrome 4
Cryptorchidism, Micropenis, Small scrotum, Decreased testicular size OMIM:615663
Buratti-Harel Syndrome
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pala... OMIM:619314
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Schuurs-Hoeijmakers Syndrome
Cryptorchidism, Volvulus OMIM:615009
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Cryptorchidism OMIM:616789
Femoral-Facial Syndrome
Cryptorchidism, Long penis, Cleft palate, Maternal diabetes ORPHA:1988
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3082
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Anal atresia, Narrow palate ORPHA:2063
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Autosomal Recessive Omodysplasia
Cryptorchidism ORPHA:93329
Ohdo Syndrome
Cryptorchidism, Small scrotum OMIM:249620
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis OMIM:619718
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Delayed puberty ORPHA:496790
Myopathy, Centronuclear, X-Linked
Cryptorchidism, High palate, Pyloric stenosis OMIM:310400
Schaaf-Yang Syndrome
Cryptorchidism, Micropenis, Hypogonadism OMIM:615547
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Cryptorchidism, Cleft palate ORPHA:994
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Intestinal pseudo-obstruction ORPHA:73246
Lig4 Syndrome
Hypoplasia of penis, Malabsorption, Cryptorchidism, Type II diabetes mellitus, Hypothyroidism ORPHA:99812
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Hypothyroidism ORPHA:85321
Orofaciodigital Syndrome Type 4
Monorchism, High, narrow palate, Submucous cleft hard palate, Rectal atresia, Primary adrenal ins... ORPHA:2753
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism ORPHA:464288
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Pyloric stenosis ORPHA:169189
Harrod Syndrome
Cryptorchidism, High palate, Hypospadias ORPHA:2115
Kbg Syndrome
Cryptorchidism, Cleft palate ORPHA:2332
Diabetic Embryopathy
Cryptorchidism, Micropenis, Abnormal morphology of female internal genitalia, Cleft palate ORPHA:1926
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallus,... ORPHA:94065
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism OMIM:608093
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Cryptorchidism, Protein-losing enteropathy, Hypothyroidism OMIM:608104
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Insulin-resistant diabetes mellitus, Primary ameno... ORPHA:293967
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Small scrotum, Cleft palate ORPHA:2728
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Anal stenosis, Hypospadias OMIM:601499
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormality of the uterus,... ORPHA:2470
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism OMIM:615824
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Abnormality of thyroid physiology ORPHA:59
Triploidy
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, Macroglos... ORPHA:3376
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias, Supernumerary nipple OMIM:618109
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Hypothyroidism, Delayed puberty OMIM:616817
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Testicular torsion ORPHA:75496
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism OMIM:619685
Trisomy 8Q
Hypoplasia of penis, Cryptorchidism, Cleft palate, High palate, Displacement of the urethral meat... ORPHA:1752
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Dis... ORPHA:2973
Arthrogryposis, Distal, Type 1A
Cryptorchidism OMIM:108120
Coffin-Siris Syndrome 2
Macroglossia, Cryptorchidism, High palate, Cleft palate OMIM:614607
Developmental And Epileptic Encephalopathy 66
Cryptorchidism OMIM:618067
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Cleft palate, Azoospermia, Hypogonadism, Infe... ORPHA:96263
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Micropenis, Small scrotum, Microphallus OMIM:300486
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism OMIM:301039
13Q12.3 Microdeletion Syndrome
Cryptorchidism ORPHA:412035
Periventricular Nodular Heterotopia 7
Cryptorchidism, Cleft palate OMIM:617201
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Diabetes mellitus, Hypospadias ORPHA:500159
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar hyperhidrosis, Ambiguous genita... OMIM:610644
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Ambiguous g... ORPHA:1300
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Crane-Heise Syndrome
Cryptorchidism, Hypoplasia of penis, Cleft palate ORPHA:1512
Hydrolethalus
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal fallopian tube morphology, Bi... ORPHA:2189
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism, Aganglionic megacolon OMIM:613266
Ring Chromosome 12 Syndrome
Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine leiomyoma, Hypothyroidism, Br... ORPHA:1439
Noonan Syndrome 6
Cryptorchidism OMIM:613224
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Dilated third ventricle, High palate OMIM:619244
Recombinant Chromosome 8 Syndrome
Cryptorchidism OMIM:179613
Short Stature-Micrognathia Syndrome
Small scrotum, Cryptorchidism, Cleft palate, High palate, Micropenis, Penoscrotal hypospadias OMIM:617164
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, High palate, Congenital hypothyroidism OMIM:617930
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Hyperhid... ORPHA:813
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Caudal Regression Syndrome
Ambiguous genitalia, Cryptorchidism, Anal atresia, Maternal diabetes ORPHA:3027
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Hypogonadism, Hi... ORPHA:251066
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Midgut malrotation, Cleft palate, Delaye... ORPHA:2326
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Bifid uvula, Cleft palate, Protruding tongue OMIM:612938
3Mc Syndrome 3
Bifid scrotum, Cryptorchidism, Cleft palate, Micropenis, Penoscrotal hypospadias OMIM:248340
Meier-Gorlin Syndrome 4
Cryptorchidism, Breast hypoplasia OMIM:613804
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Aarskog-Scott Syndrome
Cryptorchidism, Cleft palate, Shawl scrotum ORPHA:915
Arthrogryposis, Distal, Type 3
Cryptorchidism, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula OMIM:114300
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Cleft palate, Azoospermia, Hypogonadism, Infe... ORPHA:96264
Noonan Syndrome 8
Cryptorchidism OMIM:615355
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Microglossia, High palate, Cleft palate ORPHA:1307
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, High palate ORPHA:1131
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Warburg Micro Syndrome 2
Hypoplastic labia majora, Cryptorchidism, Micropenis, Small scrotum OMIM:614225
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis ORPHA:3134
Ruvalcaba Syndrome
Cryptorchidism, Delayed puberty ORPHA:3121
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hypospadias, Intestinal polyp, Lactose intolerance ORPHA:457485
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Bachmann-Bupp Syndrome
Cryptorchidism, High palate OMIM:619075
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Cryptorchidism, Interhypothalamic adhesion, High palate, Micropenis OMIM:618929
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Median cleft palate ORPHA:1827
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism OMIM:614857
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Diastrophic Dysplasia
Cryptorchidism, Cleft palate ORPHA:628
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, External genital hy... ORPHA:398069
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Anteriorly placed anus, Ambiguous genitalia, Micro... OMIM:617159
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Esophageal stric... OMIM:617053
Squalene Synthase Deficiency
Bilateral cryptorchidism, Hypospadias OMIM:618156
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Oculoskeletodental Syndrome
Macroglossia, Cryptorchidism, Protein-losing enteropathy, Hypothyroidism OMIM:618440
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, High palate, Hypothyroidism OMIM:617796
Acrodysostosis
Hypogonadism, Cryptorchidism, Irregular menstruation, Abnormality of female external genitalia ORPHA:950
Ritscher-Schinzel Syndrome 3
Cryptorchidism OMIM:619135
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, High palate ORPHA:3304
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism OMIM:620327
Chromosome 3Pter-P25 Deletion Syndrome
Cryptorchidism, High palate, Anal atresia OMIM:613792
Fanconi Anemia, Complementation Group P
Cryptorchidism OMIM:613951
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis OMIM:619847
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism OMIM:224410
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias, Supernumerary nipple ORPHA:217346
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Micropenis OMIM:600460
Noonan Syndrome 5
Cryptorchidism OMIM:611553
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Cryptorchidism, Congenital hypop... ORPHA:2323
Kapur-Toriello Syndrome
Intestinal malrotation, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Micropenis OMIM:244300
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, High, narrow palate, Decreased response to growth hormone stimulation test ORPHA:485405
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, High palate, ... ORPHA:2510
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Pyloric stenosis, Decreased fertility, Ectopic anus, Breast ... ORPHA:3138
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl... ORPHA:2250
Martin-Probst Syndrome
Bifid scrotum, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroidism OMIM:300519
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cryptorchidism ORPHA:163654
19P13.3 Microduplication Syndrome
Precocious puberty, Unilateral cryptorchidism, Cleft palate ORPHA:447980
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism ORPHA:90322
Smith-Kingsmore Syndrome
Cryptorchidism OMIM:616638
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, Micropenis, Small scrotum, High palate ORPHA:98905
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, High palate OMIM:602471
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hyperhidrosis ORPHA:2874
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Female pseudohermaphroditism, Shawl scrotum ORPHA:1519
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Bifid uvula, Hypoplastic nipples OMIM:618505
Hatipoglu Immunodeficiency Syndrome
Cryptorchidism, Hypospadias, Anhidrosis OMIM:620331
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Oli... ORPHA:85450
Flat Face-Microstomia-Ear Anomaly Syndrome
Cryptorchidism, Small scrotum, High, narrow palate ORPHA:1968
Suleiman-El-Hattab Syndrome
Cryptorchidism, High palate OMIM:618950
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Microcolon, Intestinal malrotation ORPHA:2241
Baraitser-Winter Syndrome 1
Cryptorchidism, Micropenis OMIM:243310
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Cleft palate OMIM:619123
Ritscher-Schinzel Syndrome 2
Cryptorchidism, High palate, Intestinal malrotation, Protruding tongue OMIM:300963
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum OMIM:616395
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism OMIM:214150
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Cryptorchidism, High palate OMIM:617452
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal thalamus morphology, Bifid uvula ORPHA:404440
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Neuroendocrine neoplasm ORPHA:404443
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cryptorchidism, Hypospadias OMIM:618659
Meier-Gorlin Syndrome 5
Cryptorchidism, Micropenis, Submucous cleft hard palate OMIM:613805
Diphallia
Bifid scrotum, Rectoperineal fistula, Hypospadias, Epispadias, Cryptorchidism, Penoscrotal transp... ORPHA:227
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... ORPHA:769
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Intestinal malrotation, Cleft palate ORPHA:457193
Trisomy 1Q
Small scrotum, Cryptorchidism, Cleft palate, Ambiguous genitalia, Anal atresia ORPHA:261344
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Anteriorly placed anus, Cryptorchidism, Cleft palate, High, narrow palate OMIM:618494
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Narrow palate ORPHA:364028
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias ORPHA:1786
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Hypospadias ORPHA:494344
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Cleft palate, Hypohidrosis, Hypothyroi... ORPHA:1812
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormal morphology of female internal genitalia, Hypospadias, Cleft palate ORPHA:2311
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Unilateral cleft palate, Submucous cleft hard palate, Hypospadias OMIM:619103
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Ogden Syndrome
Cryptorchidism, High, narrow palate ORPHA:276432
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, Mi... OMIM:248700
Kleefstra Syndrome 1
Hypospadias, Protruding tongue, Cryptorchidism, Macroglossia, Micropenis OMIM:610253
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Cleft palate, Hypothyroidism ORPHA:254346
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Distal Duplication 5Q
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, High, narrow palate, Hypogonadism, High palate, Micropenis, Decreased testicular ... OMIM:612513
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Micropenis, High palate, Narrow palate OMIM:619435
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Cleft... ORPHA:887
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Cryptorchidism, Micropenis, High palate OMIM:614969
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Midgut malrotation, Cleft palate, Micropenis OMIM:263750
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Cleft palate, Ect... ORPHA:2473
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Hypoplasia of penis, Hypothyroidism, Perineal hypospadias ORPHA:66634
Trisomy 13
High, narrow palate, Cryptorchidism, Cleft palate, Displacement of the urethral meatus, Abnormal ... ORPHA:3378
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Zellweger Syndrome
Hypospadias, Malabsorption, Cryptorchidism, Pyloric stenosis, Primary adrenal insufficiency, High... ORPHA:912
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis OMIM:312830
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Hypospadias, Intestinal malrotation OMIM:618316
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:619951
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Cryptorchidism, High palate ORPHA:505237
Larsen Syndrome
Cryptorchidism, Cleft palate ORPHA:503
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Narrow palate, Cleft palate, Anteriorly placed anus, Prominent scr... ORPHA:1555
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Cryptorchidism, High palate ORPHA:369891
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia, Anal atresia ORPHA:3301
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Cleft palate, Clitoral hypertrophy OMIM:214110
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test, Duodenal atr... OMIM:603467
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cryptorchidism ORPHA:329224
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstru... OMIM:101800
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism OMIM:219150
Aspartylglucosaminuria
Macroorchidism, Macroglossia, Malabsorption ORPHA:93
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Cleft palate, Anal atresia ORPHA:2008
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... OMIM:176270
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Anal stenosis, Cryptorchidism, Bifid tongue, Bic... ORPHA:2052
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal ... OMIM:236700
Blepharophimosis-Impaired Intellectual Development Syndrome
Cryptorchidism, Hypospadias, Labial hypoplasia OMIM:619293
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Furrowed tongue, High palate, Cholelithiasis, Micropenis, Decreased testicular size OMIM:300534
Seckel Syndrome 1
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy OMIM:210600
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism ORPHA:166035
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, High palate, Hypospadias OMIM:300260
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Cle... ORPHA:2166
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula OMIM:618748
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Cleft soft palate, Precocious puberty, High, narrow palate, Cleft palate, Macroorchidism, Ankylog... OMIM:619950
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Micropenis, Intestinal malrotation, Duodenal atresia OMIM:617798
Oculocerebrocutaneous Syndrome
Cryptorchidism ORPHA:1647
Autosomal Recessive Spastic Paraplegia Type 77
Bilateral cryptorchidism ORPHA:466722
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, High palate, Bifid uvula OMIM:300472
Ellis-Van Creveld Syndrome
Epispadias, Hypospadias, Cryptorchidism OMIM:225500
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Micropenis, Dilated third ventricle, Hypogonadism ORPHA:500055
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Cryptorchidism, Hypospadias OMIM:613026
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Protein-losing en... OMIM:618183
Opitz Gbbb Syndrome
Hypospadias, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, Micropenis, Anal a... OMIM:300000
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... ORPHA:2588
Aspartylglucosaminuria
Macroorchidism, Macroglossia OMIM:208400
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Intestinal malrotation OMIM:613834
Cog5-Cdg
Cryptorchidism, Micropenis, High palate ORPHA:263487
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, Protein-losi... OMIM:235255
C Syndrome
Female pseudohermaphroditism, Cryptorchidism, Cleft palate, High palate, Abnormality of the anus ORPHA:1308
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Elevated circulating parathyroid hormone level, Hypospadias ORPHA:439822
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism ORPHA:565624
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Protruding tongue, Cryptorchidism, Macroglossia, Abnormal testis morphology ORPHA:96147
Laurin-Sandrow Syndrome
Cryptorchidism ORPHA:2378
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, High palate ORPHA:284160
Genitopatellar Syndrome
Cryptorchidism, Small scrotum, Clitoral hypertrophy ORPHA:85201
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Cleft palate, Hyp... OMIM:603457
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... ORPHA:96191
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Aganglionic megacolon, Hamartoma of tongue, Cleft palate, Lobulated to... OMIM:174300
Recombinant 8 Syndrome
Small scrotum, Cryptorchidism, Cleft palate, Hypoplastic male external genitalia, Abnormality of ... ORPHA:96167
Dyskeratosis Congenita, Autosomal Dominant 3
Cryptorchidism, Oral leukoplakia OMIM:613990
Cri-Du-Chat Syndrome
Cryptorchidism, High palate, Hypospadias, Bifid uvula OMIM:123450
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, High palate, Cleft palate, Supernumerary nipple OMIM:612530
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Micropenis, High palate, Cleft palate OMIM:614230
Encephalocraniocutaneous Lipomatosis
Cryptorchidism OMIM:613001
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, M... ORPHA:96092
Costello Syndrome
Macroglossia, Cryptorchidism, Narrow palate ORPHA:3071
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, High palate, Abnormality of the uterus, Protein-losi... ORPHA:1655
Rubinstein-Taybi Syndrome
Cryptorchidism, High palate ORPHA:783
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Hypogonadism, High... OMIM:614231
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Pyloric stenosis OMIM:614438
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Cleft palate, Micropenis, Diabetes insipidus OMIM:615465
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteriorly placed anus, Cryptorchidism, Hypospadias, Cleft palate OMIM:217980
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Micropenis, Anal atresia, Median cleft lip... OMIM:264480
Lowry-Maclean Syndrome
Hypospadias, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Midgut malrotation,... ORPHA:2409
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Micropenis, Small scrotum, Hypospadias OMIM:607143
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Decreased testicul... OMIM:300998
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Ehlers-Danlos Syndrome, Classic-Like, 2
Cryptorchidism, High palate OMIM:618000
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Intestinal malrotation, Cryptorchidism, High palate, Anal atresia OMIM:617602
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:899
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... ORPHA:96182
Macs Syndrome
Cryptorchidism, High palate, Hypergonadotropic hypogonadism OMIM:613075
Mosaic Trisomy 8
Cryptorchidism, High palate, Decreased testicular size, Cleft palate ORPHA:96061
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Emanuel Syndrome
Intestinal malrotation, Cryptorchidism, Cleft palate, High palate, Micropenis, Anal atresia OMIM:609029
Microphthalmia With Limb Anomalies
High palate, Unilateral cryptorchidism, Cleft palate OMIM:206920
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Cryptorchidism, Cleft palate, Shawl scrotum, Breast hypoplasia OMIM:601353
Emanuel Syndrome
Cryptorchidism, Cleft palate, Ectopic anus, High palate, Hypogonadism, Infertility, Micropenis, B... ORPHA:96170
Renal Hypoplasia, Bilateral
Cryptorchidism ORPHA:97362
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Koolen-De Vries Syndrome
Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Narrow palate, Cleft palate, ... ORPHA:96169
Noonan Syndrome 4
Cryptorchidism OMIM:610733
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Perlman Syndrome
Cryptorchidism, Volvulus, Distal ileal atresia, Pancreatic islet-cell hyperplasia OMIM:267000
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, High palate OMIM:615803
Native American Myopathy
Cryptorchidism, Cleft palate, High palate, Submucous cleft soft palate, Bifid uvula ORPHA:168572
Oeis Complex
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... OMIM:258040
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Esopha... OMIM:206900
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Cl... OMIM:192430
C Syndrome
Cryptorchidism, High palate, Clitoral hypertrophy OMIM:211750
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Adrenal insufficiency, Chronic pancreatitis OMIM:307030
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Meier-Gorlin Syndrome 6
Decreased response to growth hormone stimulation test, Cryptorchidism, Cleft palate, Hypoplastic ... OMIM:616835
8P23.1 Microdeletion Syndrome
Cryptorchidism, High palate, Hypospadias ORPHA:251071
Microphthalmia, Lenz Type
Cryptorchidism, Hypospadias ORPHA:568
Cerebellofaciodental Syndrome
Cryptorchidism OMIM:616202
20Q11.2 Microduplication Syndrome
Bifid scrotum, Cryptorchidism, Micropenis ORPHA:363659
Chromosome 10Q26 Deletion Syndrome
Cryptorchidism, Micropenis, Small scrotum, High palate OMIM:609625
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Cleft palate ORPHA:1865
Bloom Syndrome
Cryptorchidism, Azoospermia, Type II diabetes mellitus, Decreased fertility in females OMIM:210900
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Lateral Meningocele Syndrome
Cryptorchidism, High palate, High, narrow palate ORPHA:2789
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Micropenis, Cleft soft palate, Cleft palate OMIM:616331
16P13.11 Microdeletion Syndrome
Cryptorchidism, Cleft palate ORPHA:261236
Fryns Syndrome
Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Bicornu... ORPHA:2059
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
3Mc Syndrome 2
Cryptorchidism, High palate, Hypospadias, Cleft palate OMIM:265050
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... ORPHA:264200
Noonan Syndrome 13
Cryptorchidism, High palate OMIM:619087
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Micropenis, Diabetes mellitus, Hypothyroidism OMIM:616541
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pyloric stenosis, Anterior... OMIM:619148
Neurofaciodigitorenal Syndrome
Cryptorchidism ORPHA:2673
Fg Syndrome Type 1
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s... ORPHA:93932
Noonan Syndrome 14
Cryptorchidism, High, narrow palate, Hyperhidrosis OMIM:619745
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... ORPHA:284339
Distal Deletion 3P
Cryptorchidism, High palate, Cleft palate ORPHA:1620
Martsolf Syndrome 1
Cryptorchidism, Micropenis, High palate, Hypogonadotropic hypogonadism OMIM:212720
Vacterl With Hydrocephalus
Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Abnormal fallopian tube morphology... ORPHA:3412
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Micropenis, Hypospadias, Megarectum OMIM:301056
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Ohdo Syndrome, X-Linked
Small scrotum, Hiatus hernia, Cryptorchidism, High palate, Shawl scrotum, Micropenis OMIM:300895
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... OMIM:131100
Alagille Syndrome
Cryptorchidism, Delayed puberty ORPHA:52
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Chordee, Supernumerary nipple OMIM:616728
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Malabsorpti... OMIM:619004
16Q24.3 Microdeletion Syndrome
Cryptorchidism, High palate ORPHA:261250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cryptorchidism, Hypospadias OMIM:614052
3Mc Syndrome
Bilateral cryptorchidism, Supernumerary nipple ORPHA:293843
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ambiguous genitalia, Micropenis, Duoden... OMIM:257300
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate... ORPHA:2879
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Micropenis, High palate OMIM:620224
Distal Duplication 17Q
Cryptorchidism, High palate, Cleft palate ORPHA:3379
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Breast hypoplas... OMIM:613803
Double Outlet Left Ventricle
Cryptorchidism ORPHA:3427
Ppoma
Neoplasm of the pancreas, Intestinal obstruction, Elevated circulating growth hormone concentrati... ORPHA:97278
Carpenter Syndrome 1
Precocious puberty, Cryptorchidism, High palate, External genital hypoplasia OMIM:201000
Phosphoribosylpyrophosphate Synthetase Superactivity
Cryptorchidism, High palate, Hypospadias OMIM:300661
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Cleft palate, Hypogo... ORPHA:2990
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... OMIM:201750
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Cleft palate OMIM:614294
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias, Duodenal atresia OMIM:618846
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Volvulus OMIM:616682
Somatostatinoma
Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus, Elevated circulating growth ... ORPHA:97283
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism, High, narrow palate ORPHA:1101
Grfoma
Neoplasm of the pancreas, Intestinal obstruction, Elevated circulating growth hormone concentrati... ORPHA:97261
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm of the thymus, Lon... ORPHA:744
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Micropenis, Small scrotum, Esophagitis ORPHA:495818
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic labia minora, High, nar... ORPHA:2554
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cryptorchidism, Small scrotum, Cleft palate ORPHA:2215
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Gonadal hypoplasia OMIM:278800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Cryptorchidism, Cleft palate, High palate, Micropenis, Decreased tes... ORPHA:251028
Arthrogryposis, Distal, Type 2A
Cryptorchidism, High palate OMIM:193700
Chromosome 18Q Deletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Cleft palate,... OMIM:601808
Mosaic Trisomy 9
Hypoplasia of penis, Intestinal malrotation, Cryptorchidism, Cleft palate, High palate, Abnormali... ORPHA:99776
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Micropenis, High palate OMIM:619005
Congenital Myopathy 13
Cryptorchidism, High palate, Cleft palate OMIM:255995
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Cryptorchidism, Cleft palate, Glossoptosis, High palate OMIM:611209
Wiedemann-Steiner Syndrome
Cryptorchidism, High palate OMIM:605130
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona... OMIM:618820
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, High palate, Narrow palate, Shawl scrotum OMIM:227330
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism ORPHA:2719
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Cryptorchidism, Cleft palate, Bifid uvula, High, narrow palate OMIM:309583
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227645
Van Maldergem Syndrome 2
Bifid scrotum, Hypospadias, Cryptorchidism, Anteriorly placed anus, High palate, Hypoplastic nipp... OMIM:615546
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Cleft palate OMIM:603671
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Hypospadias, Decreased fertility ORPHA:500
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cryptorchidism OMIM:620024
Orofaciodigital Syndrome Type 6
Hamartoma of tongue, Bilateral cryptorchidism, Cleft palate, Lobulated tongue, High palate, Hypot... ORPHA:2754
Pitt-Hopkins Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:610954
Gabriele-De Vries Syndrome
Cryptorchidism, High palate OMIM:617557
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Macrogl... ORPHA:261494
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Ankyloglossia, High palate ORPHA:250989
Nablus Mask-Like Facial Syndrome
Cryptorchidism, High palate, Hypoplastic nipples, Labial hypoplasia, Micropenis OMIM:608156
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Velopharyngeal insufficiency, High palate, Median cleft palate, Anal at... OMIM:617746
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Pancreatic hyperplas... OMIM:130650
Sotos Syndrome
Cryptorchidism, Narrow palate, High palate, High, narrow palate OMIM:117550
Craniofacioskeletal Syndrome
Cryptorchidism, Hypospadias, Cleft palate, Absent gallbladder OMIM:300712
Lateral Meningocele Syndrome
Cryptorchidism, High palate, Cleft palate OMIM:130720
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Cleft palate, Lobulated tongue, Ambiguous genitalia, Bifid t... OMIM:616300
Saethre-Chotzen Syndrome
Cryptorchidism, Cleft palate, Narrow palate ORPHA:794
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Protruding tongue, Cryptorchidism, Macroglossia, Shawl scrotum, Micropenis OMIM:301040
Meier-Gorlin Syndrome 7
Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed an... OMIM:617063
Craniofrontonasal Syndrome
Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Unilateral breast hypoplasia, Breast hy... OMIM:304110
Schneckenbecken Dysplasia
Cryptorchidism, Cleft palate ORPHA:3144
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Carey-Fineman-Ziter Syndrome 1
Cryptorchidism, Cleft palate, Glossoptosis, High palate, Microglossia OMIM:254940
Cockayne Syndrome Type 1
Male hypogonadism, Hypohidrosis, Cryptorchidism ORPHA:90321
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Intestinal malrotation, Crypto... OMIM:620305
Noonan Syndrome 10
Cryptorchidism, High palate OMIM:616564
Alg6-Cdg
Puberty and gonadal disorders, Macroglossia, Protein-losing enteropathy, Increased circulating an... ORPHA:79320
Chops Syndrome
Cryptorchidism, High, narrow palate OMIM:616368
Glucagonoma
Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus, Elevated circulating growth ... ORPHA:97280
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Cleft palate, Micropenis, Hypoplasia of the ovary, Aplasia of the ov... OMIM:151100
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, High, nar... ORPHA:488632
Craniolenticulosutural Dysplasia
Cryptorchidism, High palate, Bifid uvula, Cleft palate OMIM:607812
Cohen Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tongue, High, narrow palate, Delayed puberty ORPHA:193
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Cleft palate, Duodenal atresia OMIM:247200
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Anteriorly placed anus, High palate, Micropenis OMIM:618653
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Ankyloglossia, High palate, Narrow palate OMIM:616078
Hamamy Syndrome
Hypoparathyroidism, Cryptorchidism, High palate OMIM:611174
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Chordee, Hypospadias, Supernumerary nipple ORPHA:477993
Penile Agenesis
Maternal diabetes, Rectal fistula, Cryptorchidism, Tracheoesophageal fistula, Absent penis, Ambig... ORPHA:49
Exstrophy-Epispadias Complex
Bifid scrotum, Anal stenosis, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tr... ORPHA:322
Developmental And Epileptic Encephalopathy 95
Macroglossia, Cryptorchidism OMIM:618143
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Thyroid agenesis, Cryptorchidism, Submucous cleft hard pa... ORPHA:3047
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Pyloric stenosis, Clitoral hypoplasia, Labial hypoplasia, Annular pa... OMIM:147791
Treacher Collins Syndrome 1
Cryptorchidism, Abnormal parotid gland morphology, Cleft soft palate, Cleft palate OMIM:154500
Takenouchi-Kosaki Syndrome
Cryptorchidism, Hypospadias OMIM:616737
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cryptorchidism, Penile hypospadias, Hypospadias, High palate OMIM:620083
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... ORPHA:2658
Opitz-Kaveggia Syndrome
Anal stenosis, Hypospadias, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Cleft palat... OMIM:305450
Bainbridge-Ropers Syndrome
Intestinal malrotation, Supernumerary nipple, Precocious puberty, Cryptorchidism, High palate OMIM:615485
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Micropenis, High palate, Supernumerary nipple OMIM:613884
Robinow Syndrome, Autosomal Dominant 3
Cryptorchidism, Cleft palate, Anteriorly placed anus, Clitoral hypoplasia, Micropenis, Bifid tongue OMIM:616894
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Adrenal hypoplasia, Protruding tongue, Cryptorchidism, High, narrow palate, Macroglo... OMIM:214100
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Cleft pa... ORPHA:2745
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropa... OMIM:235510
Toriello-Carey Syndrome
Aganglionic megacolon, Cryptorchidism, Cleft palate, Anteriorly placed anus, High palate ORPHA:3338
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anus,... OMIM:151050
Noonan Syndrome 2
Cryptorchidism, High palate OMIM:605275
Codas Syndrome
Cryptorchidism, Rectovaginal fistula, Anal atresia OMIM:600373
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Exocrine pancreatic insufficiency, Hyperechogenic pancreas OMIM:617052
Mosaic Trisomy 20
Cryptorchidism, Cleft palate ORPHA:1724
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Malrotation of small bowel, High palate, Cleft palate ORPHA:2953
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Esophageal neoplasm, Oligoz... ORPHA:125
Kbg Syndrome
Epispadias, Cryptorchidism OMIM:148050
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Cleft palate, Furrowed tongue, Macroglossia, High palate, Hypothyroidism, Bifid u... ORPHA:453499
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glos... ORPHA:861
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ambiguous genitalia, Cryptorchidism, Micropenis OMIM:617641
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Short-segment aganglionic megacolon, Cryptorchidism, Ileus, Long-segment a... OMIM:609136
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Cryptorchidism, High palate, Cleft palate OMIM:610759
Faundes-Banka Syndrome
Cryptorchidism, Cleft palate, Premature thelarche, Delayed puberty OMIM:619376
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, Annular pancreas, Tracheoesop... OMIM:227646
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Esophagitis, Micropenis ORPHA:2896
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Micropenis ORPHA:163979
Ellis Van Creveld Syndrome
Epispadias, Abnormal morphology of female internal genitalia, Hypospadias, Cryptorchidism ORPHA:289
Barber-Say Syndrome
Absent nipple, Cryptorchidism, Hypoplastic labia minora, Velopharyngeal insufficiency, Hypoplasti... OMIM:209885
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Long uvula, Cryptorchidism, Narrow palate, High palate ORPHA:536532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Anal atresia, Cleft palate, Hypoplastic male external genitalia OMIM:236670
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Anteriorly placed anus, High palate, Hypogonadism, Annular pancreas OMIM:268400
Koolen-De Vries Syndrome
Cryptorchidism, Pyloric stenosis, Narrow palate, Cleft palate, High palate OMIM:610443
Say-Barber-Miller Syndrome
Cryptorchidism, High palate, Hypogonadism ORPHA:3132
Noonan Syndrome 3
Cryptorchidism, High palate OMIM:609942
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Cleft palate ORPHA:251014
Neurofibromatosis-Noonan Syndrome
Cryptorchidism OMIM:601321
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hypogonadism ORPHA:3042
Tarp Syndrome
Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules ORPHA:2886
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer OMIM:605822
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Cryptorchidism, Posterior pituitary hypoplasia, Micropenis, Duodenal atresia ORPHA:464311
Cerebellar-Facial-Dental Syndrome
Cryptorchidism ORPHA:444072
Mend Syndrome
Cryptorchidism, High palate, Cleft palate ORPHA:401973
Hallermann-Streiff Syndrome
Cryptorchidism, Glossoptosis, Hypothyroidism, High, narrow palate ORPHA:2108
Noonan Syndrome
Cryptorchidism, High palate, Hypogonadotropic hypogonadism ORPHA:648
Trisomy 18
Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Abnormal morphology of female in... ORPHA:3380
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Cleft palate ORPHA:85276
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Aplasia of the ... OMIM:618280
Baller-Gerold Syndrome
Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal fistula, High palate, Bifid ... OMIM:218600
Weaver Syndrome
Hydrocele testis, Cryptorchidism OMIM:277590
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Intestinal malrotation, Cryptorchidism... ORPHA:79324
Fanconi Anemia
Meckel diverticulum, Hypospadias, Aganglionic megacolon, Abnormal preputium morphology, Aplasia/H... ORPHA:84
Meier-Gorlin Syndrome 1
Cryptorchidism, Hypoplastic labia minora, Cleft palate, Hypoplastic labia majora, High palate, Sh... OMIM:224690
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Cleft palate, Micropen... ORPHA:1596
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, S... ORPHA:235
Xeroderma Pigmentosum
Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:910
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Cryptorchidism, Cleft palate, High palate, Hypoplasia of the thymus OMIM:612541
Apert Syndrome
Cryptorchidism, Esophageal atresia, Pyloric stenosis, Cleft palate, Narrow palate, Hyperhidrosis,... OMIM:101200
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Cleft palate, High palate ORPHA:2322
Shprintzen-Goldberg Syndrome
Cryptorchidism, High, narrow palate ORPHA:2462
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, High palate, Narrow palate OMIM:182212
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Premature ovarian insufficiency, Hypogonadism, Hypothyroidism ORPHA:221008
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, Cleft palate, Microphallus OMIM:618454
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism OMIM:620025
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Pyloric stenosis, Micropenis, Breast ... ORPHA:464306
Frontometaphyseal Dysplasia 2
Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcerative colitis, High palate, Delayed puberty,... OMIM:617137
Monosomy 9P
Hypospadias, Cryptorchidism, Cleft palate, High palate, Ambiguous genitalia ORPHA:261112
Mend Syndrome
Cryptorchidism, High palate OMIM:300960
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Hypogonadotropic hypogonadism, Decreased response to grow... OMIM:604292
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Intestinal malrotat... OMIM:229850
Atelosteogenesis, Type I
Cryptorchidism, Cleft palate OMIM:108720
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
De Barsy Syndrome
Cryptorchidism, High palate ORPHA:2962
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Bifid uvula, Aplasia/hypo... ORPHA:672
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Celiac disease, High,... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Celiac disease, High,... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Celiac disease, High,... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Celiac disease, High,... ORPHA:881
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Small scrotum, Hypospadias, Cleft palate OMIM:616734
Roberts Syndrome
Cryptorchidism, Long penis, Cleft palate, High palate, Clitoral hypertrophy ORPHA:3103
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Cryptorchidism, Absence of labia majora, Cleft palate, High palate, Hypoplastic nipples OMIM:265000
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate OMIM:223370
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Intestinal malrotation, Female infertility ORPHA:244
Cornelia De Lange Syndrome 1
Hypospadias, Hiatus hernia, Malrotation of colon, Cryptorchidism, High, narrow palate, Pyloric st... OMIM:122470
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High palate, Aplasia of the uterus, Unicornu... OMIM:614527
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Cryptorchidism OMIM:613563
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypogonadotropic hypogonadism, Absence of Stensen duct, Decreased response to growth hormone stim... OMIM:129900
X-Linked Intellectual Disability, Nascimento Type
Cryptorchidism, Micropenis, Hypospadias ORPHA:163956
Orofaciodigital Syndrome Type 14
Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Dilated third ventricle, Aplasia of th... ORPHA:434179
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Cryptorchidism, High palate OMIM:607721
Dyskeratosis Congenita, X-Linked
Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Hyperhidrosis, Oral leukoplakia, Dec... OMIM:305000
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
Osteoglophonic Dysplasia
Cryptorchidism, Chordee, Hypospadias, High palate OMIM:166250
Au-Kline Syndrome
Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Bifid tongue, Bifid uvula OMIM:616580
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Macroglossia, Cryptorchidism, Submucous cleft hard palate, Supernumerary nipple OMIM:619194
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Tibial Hemimelia
Ambiguous genitalia, Cryptorchidism, Hypospadias, Cleft palate ORPHA:93322
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, High, narrow palate, Cleft palate, Hypogonadism, H... OMIM:163950
Coffin-Siris Syndrome
Cryptorchidism, Hypospadias, Papillary thyroid carcinoma ORPHA:1465
Hajdu-Cheney Syndrome
Cryptorchidism, High palate, Hypospadias, Intestinal malrotation OMIM:102500
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Cleft so... ORPHA:268261
Hallermann-Streiff Syndrome
Cryptorchidism, Narrow palate, High palate, High, narrow palate OMIM:234100
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... ORPHA:3455
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Annular pancreas, Cleft palate, Aplasia/Hypoplasia of... ORPHA:264450
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cryptorchidism, Cleft palate, High palate, Hypoplastic nipples, Clitoral hypertrophy OMIM:614866
Omodysplasia 1
Cryptorchidism OMIM:258315
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Micropenis OMIM:617403
Kabuki Syndrome 1
Anal stenosis, Intestinal malrotation, Premature thelarche, Malabsorption, Cryptorchidism, Cleft ... OMIM:147920
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Increased serum testosterone l... OMIM:264090
Cohen-Gibson Syndrome
Cryptorchidism OMIM:617561
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, High, narrow palate, Pineal cyst, Delayed puberty, Submucous cleft soft palate OMIM:300967
Hypotonia, Ataxia, And Delayed Development Syndrome
Cryptorchidism, Micropenis OMIM:617330
Larsen Syndrome
Cryptorchidism, Cleft palate OMIM:150250
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Furrowed tongue, High palate, Annular pancreas, Duodenal atresia OMIM:616975
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Hypospadias, Microphallus, Duodenal atresia ORPHA:468631
Catel-Manzke Syndrome
Cryptorchidism, Cleft palate, Glossoptosis, High palate, Bifid uvula OMIM:616145
Holoprosencephaly
Hypoplasia of penis, Median cleft lip and palate, Diabetes insipidus, Diabetes mellitus, Cryptorc... ORPHA:2162
Genitopatellar Syndrome
Anal stenosis, Small scrotum, Enlarged labia minora, Cryptorchidism, Malrotation of small bowel, ... OMIM:606170
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Hypoplasia of penis, Hypospadias, Epispadias, Cryptorchidism, Hypoplas... ORPHA:3107
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Hypothyroidism, Exocrine pancreatic insufficiency OMIM:620005
Acrocallosal Syndrome
Hypospadias, Protruding tongue, Cryptorchidism, Cleft palate, High palate, Rectovaginal fistula, ... OMIM:200990
Femoral-Facial Syndrome
Maternal diabetes, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Micropenis OMIM:134780
Aymé-Gripp Syndrome
Cryptorchidism, Breast hypoplasia, Cleft palate ORPHA:1272
Distal 22Q11.2 Microduplication Syndrome
Macroglossia, Cryptorchidism, High palate, Anal atresia ORPHA:261337
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Orofaciodigital Syndrome Xiv
Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Cleft palate, Anterio... OMIM:615948
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microglossia, Cleft palat... OMIM:607932
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Esophageal atresia, High p... ORPHA:506358
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Cryptorchidism, Hypospadias, Decreased testicular size, Delayed puberty ORPHA:459070
Elsahy-Waters Syndrome
Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Anteriorly placed anus, High... OMIM:211380
Meckel Syndrome, Type 1
External genital hypoplasia, Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Ambiguou... OMIM:249000
Jacobsen Syndrome
Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Abnormality of the anus, Ectopic anus, ... ORPHA:2308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Uterus didelphys... ORPHA:93271
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Cryptorchidism, Ectopic anus, Bifid tongue, Ankyloglossia, Hypoplastic femal... ORPHA:1507
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Cryptorchi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Cryptorchi... ORPHA:352665
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, High palate, Cleft palate ORPHA:221016
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Pheochromocytoma, Delaye... ORPHA:636
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Cleft palate, Bicornuate uterus... OMIM:219000
Cockayne Syndrome A
Anhidrosis, Cryptorchidism, Irregular menstruation, Thymic hormone decreased, Hypogonadism, Micro... OMIM:216400
Microphthalmia With Limb Anomalies
Cryptorchidism, High palate, Cleft palate ORPHA:1106
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cleft palate, Cholelithiasis, Micropenis, ... ORPHA:83617
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, High palate, Cleft palate, High, narrow palate OMIM:208150
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Tr... ORPHA:138
Pseudoaminopterin Syndrome
Cryptorchidism, High palate ORPHA:221120
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, High palate, Micropenis OMIM:609945
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Anteriorl... ORPHA:857
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, Micropenis, Bifid to... OMIM:268310
Townes-Brocks Syndrome 1
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T... OMIM:107480
Poland Syndrome
Cryptorchidism, Diabetes mellitus, Hypospadias ORPHA:2911
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Micropenis, High palate, Hypospadias OMIM:309590
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Hi... ORPHA:466791
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Hypospadias, Supernumerary nipple, High, narrow palate, Cryptorchidism, Clef... ORPHA:373
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Macroglossia, Hypogonadism, High p... OMIM:309580
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Narrow palate, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, High ... OMIM:180700
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Aganglionic megacolon, Septate vagina, Intestinal malr... OMIM:270400
Chromosome 16P13.3 Duplication Syndrome
Cryptorchidism, Bifid uvula OMIM:613458
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Abnormal duoden... OMIM:601776
Floating-Harbor Syndrome
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter... ORPHA:438213
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal circulating calcium-phosphate... ORPHA:2636
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Cleft palate, Oligozoospermia, High palate, Infertility, Micr... ORPHA:3310
Carpenter Syndrome 2
Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, High, narrow palate, Narrow palat... OMIM:614976
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Pyloric stenosis, Hypogonadism, Abnormal intest... ORPHA:1606
Ctcf-Related Neurodevelopmental Disorder
Hypoplastic labia majora, Cryptorchidism, Cleft palate, Phimosis ORPHA:363611
Charge Syndrome
Hypoparathyroidism, Anal stenosis, Hypogonadotropic hypogonadism, External genital hypoplasia, De... OMIM:214800
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... OMIM:276820
Myhre Syndrome
Cryptorchidism, Cleft palate OMIM:139210
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Cryptorchidism, Submucous cleft hard palate, Adrenal insufficiency, ... OMIM:300166
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Celiac disease, Epididymal cyst, Varicocele ORPHA:2044
Norrie Disease
Diabetes mellitus, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puberty ORPHA:649
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Abnormal pancreas morphology... ORPHA:116
Coffin-Siris Syndrome 12
Hypospadias, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard p... OMIM:619325
Pachydermoperiostosis
Hyperhidrosis, Peptic ulcer, Elevated circulating growth hormone concentration, Malabsorption ORPHA:2796
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, High palate, Hematocolpos, Imperforate hymen OMIM:619522
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Prima... ORPHA:199
Peters Plus Syndrome
Intestinal fistula, Hypospadias, Cryptorchidism, Cleft palate, Congenital hypothyroidism, Hypopla... ORPHA:709
Wrinkly Skin Syndrome
Cryptorchidism, High palate ORPHA:2834
Johanson-Blizzard Syndrome
Colonic diverticula, Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Mala... OMIM:243800
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Aganglionic megacolon, Supernumerary nipple, Cryptorchidism, Pyloric ... OMIM:235730
Lowe Oculocerebrorenal Syndrome
Cryptorchidism OMIM:309000
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Xerostomia, Bicornuate uterus, Abnormal salivary gland morphology, Bifid uvula, L... ORPHA:2363
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasi... OMIM:194190
Wrinkly Skin Syndrome
Cryptorchidism, High palate OMIM:278250
Menke-Hennekam Syndrome 1
Cryptorchidism, High palate, Cleft palate OMIM:618332
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Hypoplastic labia majora, Glo... ORPHA:3472
Neu-Laxova Syndrome 1
Cryptorchidism, Cleft palate, Bifid uterus OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Hypohidrosis, Primary hypothyroidism, Delayed puberty, Male ... OMIM:219800
Cystic Fibrosis
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Steatorrhea, Pancreatitis, Exocrine pan... OMIM:219700
Focal Dermal Hypoplasia
Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Cleft palate, Anteri... OMIM:305600
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul... ORPHA:79318
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, High... OMIM:259050
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Hypospadias, Cryptorchidism, Cleft palate, Hypohidrosis OMIM:308205
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Cleft ... OMIM:113620
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hypospadias, Cleft palate OMIM:304120
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cleft palate, Bicornuate uterus, ... OMIM:268300
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Microphthalmia, Syndromic 1
Hypospadias, Aganglionic megacolon, Cryptorchidism, Rectal prolapse, High, narrow palate, Pyloric... OMIM:309800

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 Dhh

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 Dhh.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Blood-brain barrier genetic disruption leads to protective barrier formation at the Glia Limitans. PLoS biology (November 2020) Dhhtm1e(EUCOMM)Hmgu PMC7728400

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
Dhhtm283269(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dhhtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dhhtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter