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Gene: Dhh MGI:94891

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:607080
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... 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
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Deleted in azoospermia
Azoospermia OMIM:400003
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, High palate OMIM:300428
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Spermatogenic Failure 17
Male infertility OMIM:617214
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... OMIM:202110
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Te... OMIM:615542
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Micropenis, Cryptorchidism ORPHA:85274
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Denys-Drash Syndrome
Male pseudohermaphroditism, Gonadal dysgenesis ORPHA:220
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... ORPHA:432
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
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
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype OMIM:305700
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... OMIM:618187
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Currarino Syndrome
Bifid scrotum, Abnormal intestine morphology, Male pseudohermaphroditism, Hypoplasia of penis, Hy... ORPHA:1552
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... ORPHA:90790
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Gemignani Syndrome
Hypoplasia of penis, Delayed puberty, Abnormal testis morphology ORPHA:2074
Hao-Fountain Syndrome
Micropenis, Premature adrenarche, Cryptorchidism OMIM:616863
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Genitopalatocardiac Syndrome
Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Hypospadias, Cleft palate ORPHA:2075
Young Syndrome
Azoospermia OMIM:279000
Partington Syndrome
Macroorchidism ORPHA:94083
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... ORPHA:3044
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... OMIM:264600
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Cryptorchidism ORPHA:261483
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism ORPHA:3055
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Ziegler-Huang Syndrome
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... OMIM:620501
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Gordon Syndrome
High palate, Cryptorchidism, Cleft palate ORPHA:376
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:275400
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism ORPHA:2022
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:1621
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism OMIM:615982
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... ORPHA:3363
Image Syndrome
Hypogonadism, Adrenal hypoplasia, Hypospadias, Cryptorchidism ORPHA:85173
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, High palate, Gonadal dysgenesis OMIM:233400
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate OMIM:612370
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration OMIM:201100
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Cryptorchidism, Submucous cleft soft palate, Male pseudohermaphroditism, Shawl... ORPHA:2282
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
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
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo... OMIM:610628
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Ichthyosis, X-Linked
Hypohidrosis, Cryptorchidism, Testicular neoplasm OMIM:308100
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619310
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:502430
Mmep Syndrome
Cryptorchidism ORPHA:3434
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis,... OMIM:614880
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Chondrodysplasia-Difference Of Sex Development Syndrome
Male pseudohermaphroditism ORPHA:1422
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Mehmo Syndrome
External genital hypoplasia, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes mellitus ORPHA:85282
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Volvulus, Cryptorchidism, Aganglionic megacolon, Male pseudohe... ORPHA:847
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism OMIM:616681
Nivelon-Nivelon-Mabille Syndrome
Male pseudohermaphroditism OMIM:600092
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism OMIM:250951
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism OMIM:300982
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s... ORPHA:95619
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism ORPHA:250994
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism OMIM:618286
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism ORPHA:3459
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Clark-Baraitser syndrome
Macroorchidism, Exaggerated median tongue furrow OMIM:300602
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Hypoplastic male external genitalia, Cryptorchidism OMIM:618823
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Anal atresia, Hypospadias, Cryptorchidism ORPHA:1381
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism OMIM:601794
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Branchial Arch Syndrome, X-Linked
High, narrow palate, High palate, Cryptorchidism OMIM:301950
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism OMIM:617564
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Alazami-Yuan Syndrome
High palate, Cryptorchidism OMIM:617126
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Lujan-Fryns Syndrome
Macroorchidism, High palate ORPHA:776
Recessive X-Linked Ichthyosis
Hypohidrosis, Cryptorchidism ORPHA:461
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Non-Distal Duplication 10Q
High palate, Cryptorchidism ORPHA:1695
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,... ORPHA:95496
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Bifid uvula, Abnormal thalamus morphology, Insulin-resistant diabetes ... ORPHA:2959
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, High palate, Decreased fertility, Abnormal testis morphology ORPHA:2233
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:319332
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Chromosome 15Q26-Qter Deletion Syndrome
Micropenis, Hypospadias, Cryptorchidism OMIM:612626
Autosomal Recessive Amelia
Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:1027
Fetal Akinesia Deformation Sequence 2
High palate, Cryptorchidism, Cleft palate OMIM:618388
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Fragile X Syndrome
Macroorchidism ORPHA:908
Campomelic Dysplasia
Male pseudohermaphroditism, Ambiguous genitalia, Cleft palate ORPHA:140
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism OMIM:618766
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, High palate, Polycystic ovaries ORPHA:284180
Coffin-Siris Syndrome 8
Cryptorchidism OMIM:618362
Fetal Akinesia Deformation Sequence 4
High palate, Cryptorchidism OMIM:618393
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
Proximal Xq28 Duplication Syndrome
Hypospadias, Cryptorchidism ORPHA:1762
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Borjeson-Forssman-Lehmann Syndrome
Micropenis, Hypoplasia of the prostate, Delayed puberty, Cryptorchidism OMIM:301900
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Retinitis Pigmentosa 59
Micropenis, Cryptorchidism OMIM:613861
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism, High palate OMIM:300055
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Microphthalmia, Syndromic 12
Intestinal malrotation, Bicornuate uterus, Cryptorchidism, Cleft palate OMIM:615524
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism ORPHA:2958
Stt3A-Cdg
Micropenis, Small scrotum, Cryptorchidism ORPHA:370921
Intellectual Disability, Wolff Type
Abnormal intestine morphology, Hypospadias, Cryptorchidism ORPHA:3080
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Microcephaly 27, Primary, Autosomal Dominant
Micropenis, Cryptorchidism OMIM:619180
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Androgen insufficiency, Cryptorchidism, Displacement of the urethral meatus, Anal ... ORPHA:95706
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Cryptorchidism OMIM:273390
Mosaic Trisomy 14
Cryptorchidism, Ectopic anus, High palate, Hypoplasia of penis, Hypospadias, Cleft palate ORPHA:1703
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Temple Syndrome
Precocious puberty, Bifid uvula, Decreased response to growth hormone stimulation test, Type II d... ORPHA:254516
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Hypospadias, Cryptorchidism OMIM:300997
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis, Cleft palate OMIM:244200
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Hypohidrosis ORPHA:281090
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenal hypoplasia, Microp... OMIM:614732
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, True hermaphroditism, Male pse... ORPHA:564
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism OMIM:613970
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Crandall Syndrome
Hypogonadism, Hypoplasia of penis, Abnormal testis morphology ORPHA:202
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism OMIM:619908
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Hypospadias, Cryptorchidism OMIM:618815
Stt3B-Cdg
Micropenis, Small scrotum, Cryptorchidism ORPHA:370924
Prieto Syndrome
Cryptorchidism OMIM:309610
Trisomy 4P
Hypospadias, Cryptorchidism ORPHA:1738
Spinal Muscular Atrophy, X-Linked 2
Micropenis, Hypospadias, Cryptorchidism OMIM:301830
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation OMIM:601163
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Cryptorchidism, High palate, Anal atresia, Anterior hypopituitarism ORPHA:2863
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Small scrotum, Cryptorchidism OMIM:615597
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:168593
Laurence-Moon Syndrome
Hypoplasia of penis, Type II diabetes mellitus, Cryptorchidism, Displacement of the urethral meatus ORPHA:2377
Microphthalmia, Syndromic 8
Cryptorchidism, Cleft palate OMIM:601349
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Congenital Myopathy 9A
Cryptorchidism OMIM:618822
Arthrogryposis, Distal, Type 1C
Bifid uvula, High palate, Cryptorchidism, Cleft palate OMIM:619110
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Premature adrenarch... ORPHA:90795
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Bifid scrotum ORPHA:93328
Li-Campeau Syndrome
Micropenis, Hypothyroidism, Cryptorchidism OMIM:619189
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Birk-Aharoni Syndrome
Micropenis, Cryptorchidism OMIM:620071
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism OMIM:604317
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, High palate OMIM:615433
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cryptorchidism OMIM:620135
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Decreased testicular size, High palate, Cryptorchidism ORPHA:85279
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Imagawa-Matsumoto Syndrome
Cryptorchidism, Anteriorly placed anus OMIM:618786
Neurofibromatosis-Noonan Syndrome
Cryptorchidism ORPHA:638
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:2772
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
High palate, Cryptorchidism ORPHA:178148
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Anal atresia, Cryptorchidism, Supernumerary nipple OMIM:619243
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, High palate, Furrowed tongue, Cryptorchidism ORPHA:1387
Meningioma
Secondary growth hormone deficiency, Impotence, Decreased serum estradiol, Hypothalamic hypothyro... ORPHA:2495
Acrocallosal Syndrome
Hypospadias, Cryptorchidism ORPHA:36
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Abnormal rectum morphology, Male pseudohermaphro... ORPHA:2556
X-Linked Intellectual Disability, Seemanova Type
Hypogonadism, High palate, Cryptorchidism ORPHA:85323
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ana... OMIM:618419
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Bone Marrow Failure Syndrome 5
Testicular atrophy, Oral leukoplakia, Hypogonadism OMIM:618165
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Cryptorchidism ORPHA:1338
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism OMIM:616910
Chromosome 1P35 Deletion Syndrome
Congenital hypothyroidism, Cryptorchidism, High palate OMIM:617930
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Bilateral cleft palate, High palate, Macroorchidism, Hypospadias OMIM:618874
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Cryptorchidism ORPHA:1192
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism OMIM:615633
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary amenorrhea, Micropenis, C... OMIM:147950
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, High palate, Hypospadias, Cl... ORPHA:3063
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Protruding tongue ORPHA:324410
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis OMIM:300406
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Cryptorchidism ORPHA:1756
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Anal atresia, Cryptorchidism, Rectal atresia OMIM:613390
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:607080
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:1263
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina OMIM:608978
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism OMIM:613730
Distal Duplication 15Q
Abnormal female external genitalia morphology, High palate, Anal atresia, Cryptorchidism ORPHA:1707
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Micropenis, Perianal abscess, Cryptorchidism OMIM:614684
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Cryptorchidism OMIM:618504
Congenital Myopathy 19
High palate, Cryptorchidism OMIM:618578
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hypoplasia o... ORPHA:2849
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism ORPHA:466926
Urofacial Syndrome 1
Cryptorchidism OMIM:236730
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Anteriorly placed anus, Decreased serum testosterone concentration, Absent scrotum, ... ORPHA:495875
Oculocerebrocutaneous Syndrome
Cryptorchidism, Cleft palate OMIM:164180
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Cryptorchidism, Aganglionic megacolon, Ambiguous genitalia, Hy... ORPHA:452
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism ORPHA:85322
Distal Deletion 10P
Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate ORPHA:1580
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Congenital Muscular Dystrophy With Intellectual Disability
Micropenis, Abnormality of the tongue muscle, Cryptorchidism ORPHA:370968
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Abruzzo-Erickson Syndrome
Hypospadias, Cryptorchidism, Cleft palate, Coronal hypospadias ORPHA:921
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Rahman Syndrome
Cryptorchidism OMIM:617537
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Cryptorchidism, Shawl scrotum ORPHA:2256
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Acrofacial Dysostosis, Catania Type
Hypospadias, Cryptorchidism, Cleft palate OMIM:101805
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia OMIM:613987
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Cryptorchidism OMIM:611890
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, High palate ORPHA:3306
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H... ORPHA:10
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, External genital hypoplasia, Cryptorchidism ORPHA:1867
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Cryptorchidism OMIM:618577
Ruvalcaba Syndrome
Delayed puberty, Cryptorchidism OMIM:180870
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Decreased testicular size,... OMIM:616222
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Cleft palate ORPHA:1166
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Hypoplastic nipples, Absent nipple, Cryptorchidism, Male urethral meatus stenosis OMIM:616001
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Breast hypoplasia, Decreased testicular size, H... ORPHA:478
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ambiguous gen... OMIM:300219
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, Delayed puberty, Cryptorchidism ORPHA:486815
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism OMIM:272440
Mcdonough Syndrome
Cryptorchidism ORPHA:2471
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism OMIM:600118
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Hyperhidrosis, Cryptorchidism ORPHA:2617
Qazi-Markouizos Syndrome
High, narrow palate, Cryptorchidism ORPHA:3010
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism OMIM:618958
Chung-Jansen Syndrome
High palate, Cryptorchidism OMIM:617991
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Decreased testicular size, Cryptorchidism, Delayed puberty, Micropenis, Macroglossi... OMIM:300354
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Cryptorchidism, Hypoplasia of penis ORPHA:127
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism OMIM:618484
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Cleft palate OMIM:615502
Cornelia De Lange Syndrome 5
Hypogonadism, Decreased testicular size, Cryptorchidism, Micropenis, High palate, Cleft palate OMIM:300882
Freeman-Sheldon Syndrome
Cryptorchidism ORPHA:2053
Cortical Dysplasia, Complex, With Other Brain Malformations 12
High palate, Cryptorchidism OMIM:620316
Robinow Syndrome
Webbed penis, Small scrotum, Decreased serum testosterone concentration, Ankyloglossia, External ... ORPHA:97360
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Cryptorchidism, High palat... ORPHA:96184
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Micropenis, Cryptorchidism OMIM:612447
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Microphallus, Abnormal scrotum morphology, Cryptorchidism, Dysmenorrhea, Hypothyro... ORPHA:397590
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism, Cleft palate OMIM:300946
Distal Monosomy 7Q36
Hypoplasia of penis, Cryptorchidism, Cleft palate ORPHA:1636
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Supernumerary nipple OMIM:617635
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Cryptorchidism, Micropenis, Hypospadias ORPHA:2872
Urban-Rogers-Meyer Syndrome
Hypogonadism, Hypoplasia of penis, Cryptorchidism ORPHA:3409
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Cryptorchidism OMIM:249270
Distal Duplication 18Q
Abnormal female external genitalia morphology, Hypoplasia of penis, Cryptorchidism, High palate ORPHA:1716
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Hypospadias, Cryptorchidism, Diabetes mellitus OMIM:614613
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Premature adrenarche, Xerostomia, Centr... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism OMIM:617788
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Intestinal malrotation, Female pseudohermaphroditism, Displacement of the urethral meatus, Trache... ORPHA:2973
Prune Belly Syndrome
Volvulus, Abnormality of the uterus, Intestinal malrotation, Decreased testicular size, Decreased... ORPHA:2970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Micropenis, Macroglossia, Cryptorchidism OMIM:613156
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism OMIM:615419
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism ORPHA:589905
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism OMIM:619797
Weaver Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:3447
Carpenter Syndrome
Abnormal reproductive system morphology, External genital hypoplasia, Cryptorchidism ORPHA:65759
Verloove Vanhorick-Brubakk Syndrome
Cleft palate, Abnormality of the parathyroid gland, Cryptorchidism ORPHA:3429
German Syndrome
High palate, Ambiguous genitalia, Cryptorchidism ORPHA:2077
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
3-Methylglutaconic Aciduria, Type V
Decreased testicular size, Hypospadias, Cryptorchidism OMIM:610198
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Pierpont Syndrome
Cryptorchidism ORPHA:487825
Rin2 Syndrome
Premature ovarian insufficiency, High palate, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:217335
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Small scrotum, Cryptorchidism ORPHA:1970
Aminopterin Syndrome Sine Aminopterin
High palate, Cryptorchidism, Cleft palate OMIM:600325
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Diabetes mellitus, Cryptorchidism OMIM:615381
Prune Belly Syndrome
Anal atresia, Xerostomia, Cryptorchidism OMIM:100100
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis, Hypospadias OMIM:617516
14Q24.1Q24.3 Microdeletion Syndrome
Intestinal malrotation, Cryptorchidism ORPHA:401935
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Cleft palate ORPHA:1252
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, High palate OMIM:309520
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Pyloric stenosis OMIM:218350
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism OMIM:618060
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus OMIM:300957
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Male hypogonadism, Cholelithiasis, Intestinal pseudo-obstructio... ORPHA:273
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, High palate, Cleft palate OMIM:615102
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Cleft palate, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:250999
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, High palate, Increased circulating gonado... OMIM:110100
Non-Distal Duplication 13Q
High palate, Cryptorchidism ORPHA:1702
Ochoa Syndrome
Cryptorchidism ORPHA:2704
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Micropenis, Cryptorchidism, Cleft palate OMIM:610125
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Cryptorchidism ORPHA:228390
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Decreased testicular size, Cryptorchidism, Micropenis, Hypospadias OMIM:300978
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum ORPHA:1778
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, High palate, Cryptorchidism OMIM:609757
Multifocal Atrial Tachycardia
Hypothyroidism, Cryptorchidism ORPHA:3282
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:228402
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism ORPHA:2701
Pierpont Syndrome
Micropenis, Cryptorchidism OMIM:602342
Silver-Russell Syndrome 3
Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadias OMIM:616489
King-Denborough Syndrome
High palate, Cryptorchidism, Bilateral cryptorchidism OMIM:619542
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Reni Syndrome
Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Micropenis OMIM:617575
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
High palate, Hypoplastic male external genitalia, Cryptorchidism ORPHA:502434
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Increased circulating ACTH leve... OMIM:607398
Chromosome 16Q22 Deletion Syndrome
High palate, Hypospadias, Cryptorchidism OMIM:614541
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis OMIM:618832
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Joubert Syndrome 37
Micropenis, Decreased testicular size, High palate, Cryptorchidism OMIM:619185
Pagod Syndrome
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... ORPHA:991
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... ORPHA:90794
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Seckel Syndrome 5
Clitoral hypertrophy, Cryptorchidism, High palate, Hypospadias, Cleft palate OMIM:613823
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism ORPHA:485350
Nicolaides-Baraitser Syndrome
High, narrow palate, Cryptorchidism, Abnormal testis morphology ORPHA:3051
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Hypohidrosis, Tracheoesophageal fistula, Maternal diabetes, Anterior pituitary hy... ORPHA:3157
Bresek Syndrome
Aganglionic megacolon, Decreased testicular size, Cryptorchidism, Cleft palate ORPHA:85284
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Noonan Syndrome 9
Cryptorchidism OMIM:616559
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism ORPHA:88639
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism ORPHA:137634
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:2083
Osteoglosphonic Dysplasia
Cryptorchidism ORPHA:2645
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Sex reversal OMIM:613743
Lig4 Syndrome
Type II diabetes mellitus, Cryptorchidism, Amenorrhea, Hypothyroidism, Micropenis OMIM:606593
Omodysplasia 2
Uterus didelphys, Cryptorchidism, Cleft palate, Dyspareunia, Labial hypoplasia, Micropenis, Hypos... OMIM:164745
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism ORPHA:352490
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism OMIM:620365
8Q22.1 Microdeletion Syndrome
Hypogonadism, Cryptorchidism, Submucous cleft hard palate ORPHA:178303
Fetal Hydantoin Syndrome
Cleft palate, Cryptorchidism, Bifid scrotum ORPHA:1912
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenocorticotropic hormon... OMIM:615926
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Hypospadias, Cryptorchidism, Bifid scrotum OMIM:606851
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Cryptorchidism ORPHA:1145
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96263
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
High palate, Hypospadias, Cryptorchidism OMIM:300004
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Hypospadias, Cryptorchidism ORPHA:171839
Schaaf-Yang Syndrome
Hypogonadism, Micropenis, Cryptorchidism OMIM:615547
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Chordee, Hypothy... ORPHA:96179
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, High palate ORPHA:139471
Chromosome 18P Deletion Syndrome
Gonadal dysgenesis, Decreased testicular size, Cryptorchidism, Micropenis, High palate OMIM:146390
Orofaciodigital Syndrome Type 4
High, narrow palate, Bifid uvula, Decreased testicular size, Primary adrenal insufficiency, Perin... ORPHA:2753
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Hypospadias OMIM:619718
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
High palate, Hypospadias, Cryptorchidism ORPHA:98791
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology ORPHA:531151
Schuurs-Hoeijmakers Syndrome
Volvulus, Cryptorchidism OMIM:615009
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Hypospadias, Cleft palate ORPHA:2505
Toluene Embryopathy
Cryptorchidism ORPHA:1920
Orofacial Cleft 15
Cryptorchidism, Bilateral cleft palate OMIM:616788
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Ectopic... ORPHA:83628
17Q12 Microdeletion Syndrome
Diabetes mellitus, Cryptorchidism, Shawl scrotum, Pancreatic aplasia ORPHA:261265
Trisomy 20P
Macroorchidism, Ectopic anus, Hypospadias, Cryptorchidism ORPHA:261318
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Insulin-resistant diabetes mellitus, Decreased testicular size, Cryptorchidism, Hypo... ORPHA:293967
Xq12-Q13.3 Duplication Syndrome
Decreased serum insulin-like growth factor 1, Cryptorchidism ORPHA:314389
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Hypospadias, Cryptorchidism ORPHA:435938
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:617253
Trisomy 18P
High, narrow palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:1715
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, Cryptorchidism ORPHA:496790
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Cryptorchidism OMIM:616789
Femoral-Facial Syndrome
Long penis, Maternal diabetes, Cryptorchidism, Cleft palate ORPHA:1988
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hy... OMIM:241410
Autosomal Recessive Omodysplasia
Cryptorchidism ORPHA:93329
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Cryptorchidism ORPHA:1194
Buratti-Harel Syndrome
Bifid uvula, Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, High pala... OMIM:619314
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism OMIM:618652
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:3082
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, High palate, Hypoplasia... ORPHA:251066
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism ORPHA:464288
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Anal atresia, Cryptorchidism ORPHA:2063
Kbg Syndrome
Cryptorchidism, Cleft palate ORPHA:2332
Ohdo Syndrome
Small scrotum, Cryptorchidism OMIM:249620
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Hypothyroidism, Protein-losing enteropathy, Cryptorchidism OMIM:608104
Myopathy, Centronuclear, X-Linked
High palate, Cryptorchidism, Pyloric stenosis OMIM:310400
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Hypothyroidism, Cryptorchidism, Bifid scrotum ORPHA:85321
Warburg Micro Syndrome 4
Micropenis, Small scrotum, Cryptorchidism, Decreased testicular size OMIM:615663
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Hypospadias, Cryptorchidism, Cleft palate OMIM:603736
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Intestinal pseudo-obstruction ORPHA:73246
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of penis, Hypospadias ORPHA:77298
Fetal Akinesia Deformation Sequence
Cleft palate, Cryptorchidism, Intestinal hypoplasia ORPHA:994
Diabetic Embryopathy
Micropenis, Cryptorchidism, Cleft palate, Abnormal morphology of female internal genitalia ORPHA:1926
Arthrogryposis, Distal, Type 12
Palmar hyperhidrosis, High palate, Hydrocele testis, Cryptorchidism OMIM:620545
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism OMIM:301039
Triploidy
Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Macroglossia, Hypoplasia of penis, H... ORPHA:3376
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Congenital adren... OMIM:618336
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty, Cryptorchidism OMIM:616817
Allan-Herndon-Dudley Syndrome
Abnormality of thyroid physiology, Cryptorchidism ORPHA:59
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Pyloric stenosis ORPHA:169189
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Cryptorchidism, Aplasia/Hypoplasi... ORPHA:2470
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
15Q24 Microdeletion Syndrome
Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism, Intestinal a... ORPHA:94065
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
Arthrogryposis, Distal, Type 1A
Cryptorchidism OMIM:108120
Developmental And Epileptic Encephalopathy 66
Cryptorchidism OMIM:618067
Periventricular Nodular Heterotopia 7
Cryptorchidism, Cleft palate OMIM:617201
Coffin-Siris Syndrome 2
Macroglossia, High palate, Cryptorchidism, Cleft palate OMIM:614607
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Cryptorchidism, Supernumerary nipple OMIM:618109
Waardenburg Syndrome, Type 4C
Hypogonadism, Aganglionic megacolon, Cryptorchidism, Lacrimal gland hypoplasia OMIM:613266
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism OMIM:608093
Harrod Syndrome
High palate, Hypospadias, Cryptorchidism ORPHA:2115
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Micropenis, Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple ORPHA:2519
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism OMIM:615824
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Testicular torsion, Cryptorchidism ORPHA:75496
Recombinant Chromosome 8 Syndrome
Cryptorchidism OMIM:179613
Lig4 Syndrome
Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus, Cryptorchidism ORPHA:99812
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Cryptorchidism, Diabetes mellitus ORPHA:500159
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hypospadias, Cryptorchidism OMIM:601499
Trisomy 8Q
Cryptorchidism, Displacement of the urethral meatus, High palate, Bifid tongue, Hypoplasia of pen... ORPHA:1752
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Clef... ORPHA:1300
Hydrolethalus
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Abnormal fallopian tube morphology, Cle... ORPHA:2189
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Micropenis, Small scrotum, Cryptorchidism, Microphallus OMIM:300486
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Cryptorchidism, Cleft palate ORPHA:2728
Noonan Syndrome 6
Cryptorchidism OMIM:613224
13Q12.3 Microdeletion Syndrome
Cryptorchidism ORPHA:412035
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Mirage Syndrome
Microphallus, Esophageal stricture, Decreased testicular size, Adrenal insufficiency, Cryptorchid... OMIM:617053
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Xerostomia, Central hypothyroidism, Hyp... ORPHA:398069
Short Stature-Micrognathia Syndrome
Small scrotum, Cryptorchidism, Penoscrotal hypospadias, Micropenis, High palate, Cleft palate OMIM:617164
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Cryptorchidism, Hypogonadotropic hypogonadism, Ambiguous gen... OMIM:617159
Ring Chromosome 12 Syndrome
High, narrow palate, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hypothyroidism, Ut... ORPHA:1439
Aarskog-Scott Syndrome
Cleft palate, Cryptorchidism, Shawl scrotum ORPHA:915
Caudal Regression Syndrome
Anal atresia, Ambiguous genitalia, Maternal diabetes, Cryptorchidism ORPHA:3027
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Intestinal obstruction, Intestinal perforation, Oligozoospermia, Abnormal testis mo... ORPHA:85450
Kallmann Syndrome-Heart Disease Syndrome
Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadism, Delayed puber... ORPHA:2326
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
High palate, Dilated third ventricle, Cryptorchidism OMIM:619244
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Cryptorchidism, Cleft palate OMIM:612938
Arthrogryposis, Distal, Type 3
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, High palate, Cleft palate OMIM:114300
Noonan Syndrome 8
Cryptorchidism OMIM:615355
Meier-Gorlin Syndrome 4
Breast hypoplasia, Cryptorchidism OMIM:613804
Ruvalcaba Syndrome
Delayed puberty, Cryptorchidism ORPHA:3121
Greig Cephalopolysyndactyly Syndrome
Anal atresia, Hypospadias, Cryptorchidism OMIM:175700
Crane-Heise Syndrome
Hypoplasia of penis, Cryptorchidism, Cleft palate ORPHA:1512
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism OMIM:619685
Martin-Probst Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Chordee, Hypothyroidism, Micropenis OMIM:300519
Diastrophic Dysplasia
Cryptorchidism, Cleft palate ORPHA:628
Acromelic Frontonasal Dysplasia
Hypopituitarism, Median cleft palate, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:1827
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism ORPHA:90322
Bachmann-Bupp Syndrome
High palate, Cryptorchidism OMIM:619075
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Perineal hypospadias ORPHA:3134
X-Linked Mandibulofacial Dysostosis
High palate, Cryptorchidism ORPHA:1131
3Mc Syndrome 3
Bifid scrotum, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Cleft palate OMIM:248340
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Microglossia, Cryptorchidism, Cleft palate ORPHA:1307
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism OMIM:614857
Ulnar-Mammary Syndrome
Abnormality of the uterus, Breast aplasia, Decreased fertility, Cryptorchidism, Hypoplastic nippl... ORPHA:3138
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism OMIM:620073
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Hypogonadism, External genital hypoplasia, Cryptorchidism, Submucous cleft hard pala... ORPHA:2250
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Interhypothalamic adhesion, Cryptorchidism, Micropenis, High palate OMIM:618929
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Anal atresia, Cryptorchidism OMIM:613792
Oculoskeletodental Syndrome
Protein-losing enteropathy, Macroglossia, Hypothyroidism, Cryptorchidism OMIM:618440
Warburg Micro Syndrome 2
Micropenis, Small scrotum, Hypoplastic labia majora, Cryptorchidism OMIM:614225
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Diphallia
Penoscrotal transposition, Bifid scrotum, Duplicated colon, Ectopic scrotum, Cryptorchidism, Bifi... ORPHA:227
Hermansky-Pudlak Syndrome 6
Anal atresia, Perineal fistula, Endometriosis OMIM:614075
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Hypospadias, Cryptorchidism ORPHA:457485
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Intestinal malrotation, Esophagitis, Perineal fistula, Hiatus hernia, Tracheoesopha... ORPHA:2538
Intellectual Developmental Disorder, Autosomal Dominant 52
High palate, Hypothyroidism, Cryptorchidism, Bilateral cryptorchidism OMIM:617796
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Cryptorchidism ORPHA:3304
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism OMIM:620327
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Smith-Kingsmore Syndrome
Cryptorchidism OMIM:616638
19Q13.11 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Bifid scrotum, Supernumerary nipple ORPHA:217346
Noonan Syndrome 5
Cryptorchidism OMIM:611553
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism OMIM:224410
Ritscher-Schinzel Syndrome 3
Cryptorchidism OMIM:619135
Specc1L-Related Hypertelorism Syndrome
Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum ORPHA:1519
Fanconi Anemia, Complementation Group P
Cryptorchidism OMIM:613951
Micro Syndrome
Cryptorchidism, Delayed puberty, High palate, Hypoplasia of penis, Hypoplastic labia minora, Clit... ORPHA:2510
Suleiman-El-Hattab Syndrome
High palate, Cryptorchidism OMIM:618950
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cryptorchidism ORPHA:163654
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Micropenis, Cryptorchidism OMIM:619847
Congenital Multicore Myopathy With External Ophthalmoplegia
Micropenis, Small scrotum, High palate, Cryptorchidism ORPHA:98905
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Cryptorchidism OMIM:618659
Popliteal Pterygium Syndrome
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... OMIM:119500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Cryptorchidism OMIM:602471
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism OMIM:214150
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Shawl scrotum, Micropenis, Hypospadias, Cleft palate OMIM:600460
Kapur-Toriello Syndrome
Intestinal malrotation, Cryptorchidism, Hypoplastic labia majora, Micropenis, Cleft palate OMIM:244300
Baraitser-Winter Syndrome 1
Micropenis, Cryptorchidism OMIM:243310
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Cryptorchidism OMIM:617452
Sanjad-Sakati Syndrome
Cryptorchidism, Intestinal obstruction, Congenital hypoparathyroidism, Hypoparathyroidism, Hypopl... ORPHA:2323
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Hyperhidrosis, Cryptorchidism ORPHA:2874
Hatipoglu Immunodeficiency Syndrome
Hypospadias, Cryptorchidism, Anhidrosis OMIM:620331
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Abnormal thalamus morphology, Intestinal malrotation, Cryptorchidism, Cleft palate ORPHA:404440
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Cryptorchidism ORPHA:404443
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Anteriorly placed anus, Cryptorchidism, Cleft palate OMIM:618494
Stolerman Neurodevelopmental Syndrome
Bifid uvula, Hypoplastic nipples, Cryptorchidism OMIM:618505
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Hypogonadism, Decreased testicular size, Cryptorchidism, Micropenis, High pa... OMIM:612513
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias OMIM:619859
Flat Face-Microstomia-Ear Anomaly Syndrome
High, narrow palate, Small scrotum, Cryptorchidism ORPHA:1968
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Cleft palate OMIM:619123
Trisomy 1Q
Small scrotum, Cryptorchidism, Ambiguous genitalia, Anal atresia, Cleft palate ORPHA:261344
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Protruding tongue, Cryptorchidism, High palate OMIM:300963
19P13.12 Microdeletion Syndrome
Precocious puberty, Cryptorchidism, Hypothyroidism, Hypospadias, Cleft palate ORPHA:254346
Ogden Syndrome
High, narrow palate, Cryptorchidism ORPHA:276432
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Cryptorchidism, Cleft palate, Abnormal morphology of female internal genitalia ORPHA:2311
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypothyroidism, Decreased ... ORPHA:363528
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Elevated circulating parathyroid hormone level, Elevated circulating thyr... OMIM:101800
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Narrow palate, Cryptorchidism ORPHA:364028
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Intestinal malrotation, Cryptorchidism, Cleft palate ORPHA:457193
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... ORPHA:95494
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism ORPHA:494344
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, High palate, Cryptorchidism ORPHA:369891
Vacterl/Vater Association
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Ambiguous genita... ORPHA:887
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hypohidrosis, Hypoplasia of penis, Cleft pa... ORPHA:1812
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di... ORPHA:168569
Pontocerebellar Hypoplasia, Type 7
Micropenis, High palate, Ambiguous genitalia, Cryptorchidism OMIM:614969
Trisomy 13
High, narrow palate, Abnormal morphology of female internal genitalia, Cryptorchidism, Displaceme... ORPHA:3378
Acrofacial Dysostosis, Catania Type
Hypospadias, Cryptorchidism ORPHA:1786
Marden-Walker Syndrome
High, narrow palate, Cryptorchidism, Micropenis, High palate, Hypospadias, Cleft palate, Pyloric ... OMIM:248700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Intestinal malrotation, Microcolon, Cryptorchidism ORPHA:2241
Bardet-Biedl Syndrome 20
Micropenis, Male hypogonadism, Pancreatitis, Bilateral cryptorchidism OMIM:619471
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hypogonadism, Dilated third ventricle, Micropenis, Cryptorchidism ORPHA:500055
Meier-Gorlin Syndrome 5
Micropenis, Cryptorchidism, Submucous cleft hard palate OMIM:613805
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cryptorchidism ORPHA:329224
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Intestinal malrotation, Hypospadias, Cryptorchidism OMIM:618316
Ritscher-Schinzel Syndrome 4
Micropenis, Narrow palate, High palate, Cryptorchidism OMIM:619435
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Aganglionic megacolon, Ectopic anus, Uro... ORPHA:2473
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Bifid uvula, Hypogonadism, External genital hypopl... ORPHA:2588
Kleefstra Syndrome 1
Protruding tongue, Cryptorchidism, Micropenis, Macroglossia, Hypospadias OMIM:610253
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Prominent scrotal raphe, Narrow palate, Cl... ORPHA:1555
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Cryptorchidism ORPHA:505237
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft palate, Hypospadias, Cryptorchidism, Submucous cleft hard palate OMIM:619103
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Cryptorchidism, Supernumerary nipple OMIM:619951
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism ORPHA:96097
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Perineal hypospadias OMIM:312830
Acrodysostosis
Abnormal female external genitalia morphology, Cryptorchidism, Irregular menstruation, Hypogonadism ORPHA:950
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Nelson Syndrome
Increased circulating cortisol level, Pituitary carcinoma, Increased circulating prolactin concen... ORPHA:199244
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary amenorrhea, Micr... OMIM:603457
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism OMIM:219150
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cryptorchidism, Midgut malrotation, Micropenis, Cleft palate, Pyloric stenosis OMIM:263750
Developmental And Epileptic Encephalopathy 111
Cryptorchidism OMIM:620504
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Cryptorchidism, Labial hypoplasia OMIM:619293
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Furrowed tongue, Cryptorchidism, Micropenis, High palate OMIM:300534
Zellweger Syndrome
Clitoral hypertrophy, Primary adrenal insufficiency, Cryptorchidism, High palate, Hypospadias, Py... ORPHA:912
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Clitoral hypertrophy, Cryptorchidism, Cleft palate OMIM:214110
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Acrocardiofacial Syndrome
Cryptorchidism, Hyperthyroidism, Anal atresia, Hypospadias, Hypoplasia of penis, Cleft palate ORPHA:2008
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
High palate, Hypospadias, Cryptorchidism OMIM:300260
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism ORPHA:166035
Larsen Syndrome
Cryptorchidism, Cleft palate ORPHA:503
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Anal atresia, Cryptorchidism ORPHA:3301
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Duodenal atresia, Cryptorchidism, Micropha... OMIM:603467
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Decreased response to growth hormone stimulation test, Externa... OMIM:176270
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Hypogonadism, External genital hypoplasia, Cryptorchidism, High palate, Diabetes m... OMIM:614231
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Anal atresia, Adrenal h... ORPHA:2166
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Aganglionic megacolon, Vaginal atres... OMIM:236700
Seckel Syndrome 1
Clitoral hypertrophy, Cryptorchidism, High palate, Hypospadias, Cleft palate OMIM:210600
Oculocerebrocutaneous Syndrome
Cryptorchidism ORPHA:1647
C Syndrome
Female pseudohermaphroditism, Cryptorchidism, Abnormality of the anus, High palate, Cleft palate ORPHA:1308
Chromosome 19Q13.11 Deletion Syndrome, Distal
Hypospadias, Cryptorchidism, Bifid scrotum OMIM:613026
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Ambiguous genitalia, Abnormal fallo... ORPHA:3097
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Protruding tongue, Abnormal testis morphology, Macroglossia, Hypoplasia of penis ORPHA:96147
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Intestinal malrotation, Cryptorchidism, Duodenal atresia OMIM:617798
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Cryptorchidism, Thyroid lymphangiectasia... OMIM:235255
Macs Syndrome
High palate, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:613075
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Protein-losing en... OMIM:618183
Pde4D Haploinsufficiency Syndrome
Hypospadias, Cryptorchidism, Elevated circulating parathyroid hormone level ORPHA:439822
Emanuel Syndrome
Bifid uvula, Hypogonadism, Cryptorchidism, Ectopic anus, Anal atresia, Micropenis, Infertility, H... ORPHA:96170
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism ORPHA:565624
Bloom Syndrome
Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism OMIM:210900
Cri-Du-Chat Syndrome
Bifid uvula, High palate, Hypospadias, Cryptorchidism OMIM:123450
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97278
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Opitz Gbbb Syndrome
Rectourethral fistula, Cryptorchidism, Anal atresia, Micropenis, High palate, Hypospadias, Cleft ... OMIM:300000
Cog5-Cdg
Micropenis, High palate, Cryptorchidism ORPHA:263487
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cryptorchidism, Cleft palate, Supernumerary nipple OMIM:612530
Laurin-Sandrow Syndrome
Cryptorchidism ORPHA:2378
Ellis-Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias OMIM:225500
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula OMIM:618748
Fraser Syndrome
Small scrotum, Anal stenosis, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorch... ORPHA:2052
Costello Syndrome
Macroglossia, Narrow palate, Cryptorchidism ORPHA:3071
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Recombinant 8 Syndrome
Small scrotum, Cryptorchidism, Abnormality of the anus, Hypoplastic male external genitalia, Clef... ORPHA:96167
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Cryptorchidism ORPHA:85201
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism, High palate ORPHA:284160
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, High, narrow palate, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, M... ORPHA:96092
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Small scrotum, Hypospadias, Cryptorchidism OMIM:607143
Encephalocraniocutaneous Lipomatosis
Cryptorchidism OMIM:613001
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, High palate, Bilateral cryptorchidism OMIM:300472
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Central hypothyroidism, Bilateral cryptorchidism, Decreased testicular size, Cryptorchidism, Hypo... OMIM:300998
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Cryptorchidism OMIM:618000
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Cryptorchidism OMIM:613834
Rubinstein-Taybi Syndrome
High palate, Cryptorchidism ORPHA:783
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Pyloric stenosis OMIM:614438
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Premature adrenarche, High, narrow palate, Decreased response to growth hormo... ORPHA:96182
Chromosome 14Q11-Q22 Deletion Syndrome
Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorch... OMIM:613457
Walker-Warburg Syndrome
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Hypoplasia of penis, Cleft palate ORPHA:899
Microphthalmia, Syndromic 3
Cryptorchidism, Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Esophageal atresia, Anteri... OMIM:206900
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, High palate, Cryptorchidism, Cleft palate OMIM:614230
Emanuel Syndrome
Intestinal malrotation, Cryptorchidism, Anal atresia, Micropenis, High palate, Cleft palate OMIM:609029
Congenital Heart Defects And Skeletal Malformations Syndrome
Intestinal malrotation, Cryptorchidism, Anal atresia, High palate, Hypospadias OMIM:617602
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteriorly placed anus, Hypospadias, Cryptorchidism, Cleft palate OMIM:217980
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Breast hypoplasia, Cryptorchidism, Shawl scrotum, Cleft palate OMIM:601353
Martsolf Syndrome 1
Micropenis, Hypogonadotropic hypogonadism, High palate, Cryptorchidism OMIM:212720
Noonan Syndrome 4
Cryptorchidism OMIM:610733
Robinow Syndrome, Autosomal Dominant 2
Micropenis, Cleft soft palate, Cryptorchidism, Cleft palate OMIM:616331
Pseudotrisomy 13 Syndrome
Median cleft palate, Cryptorchidism, Adrenal hypoplasia, Micropenis, Anal atresia, Bicornuate uterus OMIM:264480
Mosaic Trisomy 8
Decreased testicular size, High palate, Cryptorchidism, Cleft palate ORPHA:96061
Koolen-De Vries Syndrome
High, narrow palate, Cryptorchidism, Hypothyroidism, Narrow palate, Hypospadias, Cleft palate, Py... ORPHA:96169
Orofaciodigital Syndrome V
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Aganglionic megacolon, Bifid tongue, Unilateral ... OMIM:174300
Renal Hypoplasia, Bilateral
Cryptorchidism ORPHA:97362
Oeis Complex
Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitalia, female, Ab... OMIM:258040
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pontocerebellar Hypoplasia, Type 10
High palate, Cryptorchidism OMIM:615803
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Elevated circu... OMIM:300942
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Median cleft palate, Cryptorchidism, Ambiguous genitalia, Adrenal hy... OMIM:612651
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Hartsfield Syndrome
Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus, Hypospadias, Cleft palate OMIM:615465
Native American Myopathy
Bifid uvula, Cryptorchidism, Submucous cleft soft palate, High palate, Cleft palate ORPHA:168572
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Chordee, Cryptorchidism, Supernumerary nipple OMIM:616728
20Q11.2 Microduplication Syndrome
Micropenis, Cryptorchidism, Bifid scrotum ORPHA:363659
Meier-Gorlin Syndrome 6
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypoplastic labia majora, ... OMIM:616835
Noonan Syndrome 13
High palate, Cryptorchidism OMIM:619087
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Cleft palate ORPHA:1865
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, High, narrow palate, Ankyloglossia, Cleft soft palate, Macroorchidism, Cleft ... OMIM:619950
Fryns Syndrome
Intestinal malrotation, Cryptorchidism, Aganglionic megacolon, Ectopic anus, High palate, Anal at... ORPHA:2059
Lateral Meningocele Syndrome
High, narrow palate, High palate, Cryptorchidism ORPHA:2789
Chromosome 10Q26 Deletion Syndrome
Micropenis, Small scrotum, High palate, Cryptorchidism OMIM:609625
C Syndrome
Clitoral hypertrophy, Cryptorchidism, High palate OMIM:211750
Perlman Syndrome
Distal ileal atresia, Volvulus, Cryptorchidism, Pancreatic islet-cell hyperplasia OMIM:267000
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, Hypoparathyroidism, Cl... OMIM:192430
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Anal atresia, H... OMIM:619148
Microphthalmia, Lenz Type
Hypospadias, Cryptorchidism ORPHA:568
8P23.1 Microdeletion Syndrome
High palate, Hypospadias, Cryptorchidism ORPHA:251071
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Micropenis, Megarectum, Hypospadias, Cryptorchidism OMIM:301056
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Cryptorchidism, Anal atresia, High pa... ORPHA:93932
Cerebellofaciodental Syndrome
Cryptorchidism OMIM:616202
16P13.11 Microdeletion Syndrome
Cryptorchidism, Cleft palate ORPHA:261236
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Increased circulating cortisol level, Pituitary... OMIM:131100
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Hypogonadism, Cryptorchidism, High palate, Absence of labia majora, Hypoplasia of ... ORPHA:2990
Intellectual Developmental Disorder, X-Linked 112
Volvulus, Cryptorchidism, Ambiguous genitalia, Pancreatic cysts, Hypospadias OMIM:301111
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Micropenis, Hypospadias, Duodenal atresia, Cl... OMIM:257300
Noonan Syndrome 14
High, narrow palate, Hyperhidrosis, Cryptorchidism OMIM:619745
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Hiatus hernia, Shawl scrotum, Micropenis, High palate OMIM:300895
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Hypothyroidism, Diabetes mellitus, Cryptorchidism OMIM:616541
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Glucagonoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97280
Distal Deletion 3P
High palate, Cryptorchidism, Cleft palate ORPHA:1620
Alagille Syndrome
Delayed puberty, Cryptorchidism ORPHA:52
Carpenter Syndrome 1
Precocious puberty, External genital hypoplasia, Cryptorchidism, High palate OMIM:201000
14Q22Q23 Microdeletion Syndrome
Small scrotum, Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Diabetes insipi... ORPHA:264200
Vacterl With Hydrocephalus
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Abnormal fallopian tube morphology... ORPHA:3412
Aspartylglucosaminuria
Macroglossia, Macroorchidism ORPHA:93
Neurofaciodigitorenal Syndrome
Cryptorchidism ORPHA:2673
16Q24.3 Microdeletion Syndrome
High palate, Cryptorchidism ORPHA:261250
Deeah Syndrome
Narrow palate, Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrin... OMIM:619004
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... ORPHA:79644
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Streak ovary, Cryptorc... OMIM:618820
3Mc Syndrome 2
High palate, Hypospadias, Cryptorchidism, Cleft palate OMIM:265050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Cryptorchidism OMIM:614052
Aspartylglucosaminuria
Macroglossia, Macroorchidism OMIM:208400
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micropenis, High palate, Cryptorchidism OMIM:620224
Pallister-Hall Syndrome
Precocious puberty, Microglossia, Anteriorly placed anus, Decreased response to growth hormone st... OMIM:146510
Meier-Gorlin Syndrome 3
Small scrotum, Clitoral hypertrophy, Breast hypoplasia, Hypoplastic labia minora, Cryptorchidism,... OMIM:613803
Phocomelia, Schinzel Type
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... ORPHA:2879
Phosphoribosylpyrophosphate Synthetase Superactivity
High palate, Hypospadias, Cryptorchidism OMIM:300661
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Cryptorchidism ORPHA:1101
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227645
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, High palate, Glossoptosis, Hypospadias, Cleft palate OMIM:611209
Noonan Syndrome With Multiple Lentigines
Decreased fertility, Hypospadias, Cryptorchidism ORPHA:500
Congenital Myopathy 13
High palate, Cryptorchidism, Cleft palate OMIM:255995
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, External genital hypoplasia, Cryptorchidism, Micropenis, High palate, ... ORPHA:251028
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cryptorchidism OMIM:301310
Distal Duplication 17Q
High palate, Cryptorchidism, Cleft palate ORPHA:3379
Arthrogryposis, Distal, Type 2A
High palate, Cryptorchidism OMIM:193700
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Intestinal malrotation, Cryptor... ORPHA:99776
Chromosome 18Q Deletion Syndrome
Bifid uvula, Decreased response to growth hormone stimulation test, Cryptorchidism, Micropenis, H... OMIM:601808
9Q33.3Q34.11 Microdeletion Syndrome
Micropenis, Small scrotum, Esophagitis, Cryptorchidism ORPHA:495818
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Cleft palate OMIM:614294
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Cryptorchidism, Cleft palate ORPHA:2215
Cockayne Syndrome Type 1
Male hypogonadism, Hypohidrosis, Cryptorchidism ORPHA:90321
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:293978
Double Outlet Left Ventricle
Cryptorchidism ORPHA:3427
Gorlin Syndrome
Hypogonadotropic hypogonadism, Ovarian fibroma, Cryptorchidism ORPHA:377
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Van Maldergem Syndrome 2
Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Hypoplastic nipples, Micropenis, High pala... OMIM:615546
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Clitoral hypertrophy, Breast aplasia, Hypoplastic labia minora,... ORPHA:2554
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Volvulus, Intestinal malrotation, Cryptorchidism, Hiatus hernia OMIM:616682
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Beckwith-Wiedemann Syndrome
Macroglossia, Pancreatic hyperplasia, Overgrowth of external genitalia, Adrenocortical cytomegaly... OMIM:130650
Exstrophy-Epispadias Complex
Penoscrotal transposition, Anal stenosis, Male sexual dysfunction, Bifid scrotum, Female sexual d... ORPHA:322
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia, Cryptorchidism, Esophageal stricture OMIM:613990
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Bifid uvula, Cryptorchidism, Cleft palate OMIM:309583
Kleefstra Syndrome
Supernumerary nipple, Cryptorchidism, Micropenis, Macroglossia, Hypoplasia of penis, Hypospadias,... ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Micropenis, High palate, Cryptorchidism OMIM:619005
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism ORPHA:2719
Glycerol Kinase Deficiency
Adrenal insufficiency, Chronic pancreatitis, Cryptorchidism, Adrenocortical hypoplasia OMIM:307030
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Ambiguous genitalia, Bifid tongue, Anal atresia, Cleft palat... OMIM:616300
Diets-Jongmans Syndrome
Hypospadias, Cryptorchidism, Duodenal atresia OMIM:618846
Sotos Syndrome
High, narrow palate, Narrow palate, High palate, Cryptorchidism OMIM:117550
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Cryptorchidism, Shawl scrotum, Micropenis, Macroglossia, Hypospadias OMIM:301040
Lateral Meningocele Syndrome
High palate, Cryptorchidism, Cleft palate OMIM:130720
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, High palate, Cryptorchidism, Shawl scrotum OMIM:227330
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Cryptorchidism ORPHA:250989
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Chordee, Hypospadias, Cryptorchidism, Supernumerary nipple ORPHA:477993
Craniofrontonasal Syndrome
Breast hypoplasia, Cryptorchidism, Unilateral breast hypoplasia, Shawl scrotum, Hypospadias, Clef... OMIM:304110
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cryptorchidism OMIM:620024
Pitt-Hopkins Syndrome
Micropenis, Cryptorchidism, Supernumerary nipple OMIM:610954
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Hypoplastic nipples, Labial hypoplasia, Micropenis, High palate OMIM:608156
Acromegaly
Long penis, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Wide penis, ... ORPHA:963
Gabriele-De Vries Syndrome
High palate, Cryptorchidism OMIM:617557
Saethre-Chotzen Syndrome
Narrow palate, Cryptorchidism, Cleft palate ORPHA:794
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, C... OMIM:617063
Chops Syndrome
High, narrow palate, Cryptorchidism OMIM:616368
Noonan Syndrome 10
High palate, Cryptorchidism OMIM:616564
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, High, narrow palate, Bifid uvula, Hypogonadism, External genital hypop... ORPHA:2658
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, Central adrenal insuf... ORPHA:488632
Carey-Fineman-Ziter Syndrome 1
Microglossia, Cryptorchidism, High palate, Glossoptosis, Cleft palate OMIM:254940
Cohen Syndrome
High, narrow palate, Delayed puberty, Cryptorchidism, Aplasia/Hypoplasia of the tongue ORPHA:193
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Neurooculorenal Syndrome
Ectopic posterior pituitary, Central hypothyroidism, Anteriorly placed anus, Intestinal malrotati... OMIM:620305
Craniofacioskeletal Syndrome
Hypospadias, Absent gallbladder, Cryptorchidism, Cleft palate OMIM:300712
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper... ORPHA:84
Craniolenticulosutural Dysplasia
Bifid uvula, High palate, Cryptorchidism, Cleft palate OMIM:607812
Multicystic Dysplastic Kidney
Cryptorchidism ORPHA:1851
Miller-Dieker Lissencephaly Syndrome
Cleft palate, Cryptorchidism, Duodenal atresia OMIM:247200
Developmental And Epileptic Encephalopathy 95
Macroglossia, Cryptorchidism OMIM:618143
Lenz-Majewski Hyperostotic Dwarfism
Microglossia, Anteriorly placed anus, Cryptorchidism, Chordee, Anterior pituitary hypoplasia, Hyp... OMIM:151050
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Female infertility, Celiac disease, Abn... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Female infertility, Celiac disease, Abn... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Female infertility, Celiac disease, Abn... ORPHA:99226
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Female infertility, Celiac disease, Abn... ORPHA:881
Schneckenbecken Dysplasia
Cryptorchidism, Cleft palate ORPHA:3144
Takenouchi-Kosaki Syndrome
Hypospadias, Cryptorchidism OMIM:616737
Hamamy Syndrome
Hypoparathyroidism, High palate, Cryptorchidism OMIM:611174
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Ankyloglossia, High palate, Cryptorchidism OMIM:616078
Baller-Gerold Syndrome
Bifid uvula, Anteriorly placed anus, Perineal fistula, High palate, Anal atresia, Rectovaginal fi... OMIM:218600
Somatomammotropinoma
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:314769
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Ankyloglossia, Cryptorchidism, Ectopic anus, Enlarged ovaries, ... ORPHA:2745
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, Supernumerary nipple, Cryptorchidism, Micropenis, High palate OMIM:618653
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Labial hypoplasia, Hypospadias, Clitoral hypoplasia, Pyloric st... OMIM:147791
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Ectopic thyroid, Cryptorchidism, Submucous cleft hard palate, Thyroid agenesis, Hypo... ORPHA:3047
Penile Agenesis
Cryptorchidism, Ambiguous genitalia, Tracheoesophageal fistula, Maternal diabetes, Rectal fistula... ORPHA:49
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Intestinal lymphangiectasia, Cryptorchidism, Thyroid lymphangiectasia... OMIM:235510
Robinow Syndrome, Autosomal Dominant 3
Anteriorly placed anus, Clitoral hypoplasia, Cryptorchidism, Micropenis, Bifid tongue, Cleft palate OMIM:616894
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Anteriorly placed anus, Intestinal malrotation, Cryptorchidism, Ana... OMIM:305450
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Clitoral hypertrophy, Cryptorchidism, Protruding tongue, Adrenal hypoplasia,... OMIM:214100
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Penile hypospadias, High palate, Hypospadias, Cryptorchidism OMIM:620083
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Hype... OMIM:227646
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism OMIM:601186
Bone Marrow Failure Syndrome 3
Hyperechogenic pancreas, Pancreatic steatosis, Exocrine pancreatic insufficiency, Cryptorchidism OMIM:617052
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Anteriorly placed anus, Hypogonadism, Cryptorchidism, High palate OMIM:268400
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Say-Barber-Miller Syndrome
Hypogonadism, High palate, Cryptorchidism ORPHA:3132
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, High palate, Cryptorchidism, Cleft palate ORPHA:2953
Codas Syndrome
Anal atresia, Rectovaginal fistula, Cryptorchidism OMIM:600373
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Furrowed tongue, Cryptorchidism, Hypothyroidism, Macroglossia, High palate, Cleft pa... ORPHA:453499
Toriello-Carey Syndrome
Anteriorly placed anus, Cryptorchidism, Aganglionic megacolon, High palate, Cleft palate ORPHA:3338
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Ileus, Cryptorchidism, Aganglionic megacolon, Hypohidrosis, ... OMIM:609136
Koolen-De Vries Syndrome
Cryptorchidism, High palate, Narrow palate, Cleft palate, Pyloric stenosis OMIM:610443
Chromosome 13Q14 Deletion Syndrome
Micropenis, High palate, Cryptorchidism, Supernumerary nipple OMIM:613884
Treacher-Collins Syndrome
Small scrotum, Cryptorchidism, Glossoptosis, Hypoplasia of the thymus, Abnormality of the adrenal... ORPHA:861
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
High palate, Cryptorchidism, Cleft palate OMIM:610759
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Long uvula, High palate, Narrow palate, Diabetes mellitus ORPHA:536532
Mosaic Trisomy 20
Cryptorchidism, Cleft palate ORPHA:1724
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Micropenis, Ambiguous genitalia, Cryptorchidism OMIM:617641
Cystic Fibrosis
Absent vas deferens, Exocrine pancreatic insufficiency, Rectal prolapse, Steatorrhea, Meconium il... ORPHA:586
Ellis Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias, Abnormal morphology of female internal genitalia ORPHA:289
2Q31.1 Microdeletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Cleft palate ORPHA:251014
Noonan Syndrome 3
High palate, Cryptorchidism OMIM:609942
Kbg Syndrome
Cryptorchidism, Epispadias OMIM:148050
Pitt-Hopkins Syndrome
Supernumerary nipple, Esophagitis, Cryptorchidism, Hiatus hernia, Aganglionic megacolon, Micropenis ORPHA:2896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Anal atresia, Hypoplastic male external genitalia, Cryptorchidism, Cleft palate OMIM:236670
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hypogonadism, Bilateral cryptorchidism ORPHA:3042
Barber-Say Syndrome
Absent nipple, Velopharyngeal insufficiency, Cryptorchidism, Hypoplastic nipples, Hypoplastic lab... OMIM:209885
Cardiac-Urogenital Syndrome
Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia... OMIM:618280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Xerostomia, Anteriorly placed anus, Decreased response to growth hormone stimulati... OMIM:604292
Cerebellar-Facial-Dental Syndrome
Cryptorchidism ORPHA:444072
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Micropenis, Hypospadias, Cleft palate ORPHA:163979
Hallermann-Streiff Syndrome
High, narrow palate, Hypothyroidism, Cryptorchidism, Glossoptosis ORPHA:2108
Faundes-Banka Syndrome
Premature thelarche, Delayed puberty, Cryptorchidism, Cleft palate OMIM:619376
Xeroderma Pigmentosum
Hypogonadism, Decreased testicular size, Cryptorchidism ORPHA:910
Neurofibromatosis-Noonan Syndrome
Cryptorchidism OMIM:601321
Trisomy 18
Abnormal morphology of female internal genitalia, Cryptorchidism, Anal atresia, Esophageal atresi... ORPHA:3380
Mend Syndrome
High palate, Cryptorchidism, Cleft palate ORPHA:401973
Tarp Syndrome
Cryptorchidism, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft palate ORPHA:2886
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Posterior pituitary hypoplasia, Micropenis, Hypospadias, Duodenal atresia ORPHA:464311
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Breast hypoplasia, Cryptorchidism, Hypoplastic labia majora, Shawl scrotum,... OMIM:224690
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, High palate, Cryptorchidism OMIM:182212
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic o... ORPHA:744
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Microphallus, Supernumerary nipple, Cryptorchidism, Cleft palate OMIM:618454
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Cleft palate ORPHA:85276
Dubowitz Syndrome
Anal stenosis, Abnormal female external genitalia morphology, Cryptorchidism, Submucous cleft har... ORPHA:235
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Premature ovarian insufficiency, Hypothyroidism, Cryptorchidism ORPHA:221008
Apert Syndrome
Bifid uvula, Cryptorchidism, Ectopic anus, Esophageal atresia, Hyperhidrosis, Vaginal atresia, Na... OMIM:101200
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Hypoplasia of the thymus, Perianal abscess, High palate, Cleft palate OMIM:612541
Shprintzen-Goldberg Syndrome
High, narrow palate, Cryptorchidism ORPHA:2462
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Cryptorchidism, Anterior pituitary hypoplasia, Micropenis, Hypospadias, Duoden... ORPHA:464306
Fryns Syndrome
Hypospadias, Meckel diverticulum, Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aganglio... OMIM:229850
De Barsy Syndrome
High palate, Cryptorchidism ORPHA:2962
Distal Deletion 15Q
Cryptorchidism, Decreased serum insulin-like growth factor 1, Micropenis, Hypospadias, Bifid tong... ORPHA:1596
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Xerostomia, Decreased response to growth hormone stimulation test, Transverse vaginal septum, Cry... OMIM:129900
Frontometaphyseal Dysplasia 2
Bifid uvula, Cryptorchidism, Delayed puberty, High palate, Ulcerative colitis, Cleft palate, Pylo... OMIM:617137
Kabuki Syndrome
Precocious puberty, Cryptorchidism, High palate, Hypoplasia of penis, Hypospadias, Cleft palate ORPHA:2322
Monosomy 9P
Cryptorchidism, Ambiguous genitalia, High palate, Hypospadias, Cleft palate ORPHA:261112
Mend Syndrome
High palate, Cryptorchidism OMIM:300960
Osteoglophonic Dysplasia
Chordee, Hypospadias, Cryptorchidism, High palate OMIM:166250
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Atelosteogenesis, Type I
Cryptorchidism, Cleft palate OMIM:108720
Cornelia De Lange Syndrome 1
High, narrow palate, Hypoplastic male external genitalia, Cryptorchidism, Hiatus hernia, Hypoplas... OMIM:122470
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Breast aplasia, Cleft soft palate, Cryptor... ORPHA:268261
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism OMIM:620025
Acromelic Frontonasal Dysostosis
Hypopituitarism, Submucous cleft soft palate, Cryptorchidism, Cleft palate OMIM:603671
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Hypoplastic nipples, Absence of labia majora, High palate, Hypospadias, Cleft palate OMIM:265000
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Cleft palate OMIM:616734
X-Linked Intellectual Disability, Nascimento Type
Micropenis, Hypospadias, Cryptorchidism ORPHA:163956
Dubowitz Syndrome
Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, High palate, Hypospadias OMIM:223370
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, H... OMIM:614527
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Cryptorchidism OMIM:613563
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Decreased testicular size, Cryptorchidism, Phimosis, Hyperhidrosis, Anal mucosa... OMIM:305000
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cryptorchidism, High palate, Cleft palate ORPHA:3103
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Macroglossia, Cryptorchidism, Submucous cleft hard palate, Supernumerary nipple OMIM:619194
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
High palate, Cryptorchidism OMIM:607721
Au-Kline Syndrome
Bifid uvula, Supernumerary nipple, Cryptorchidism, Bifid tongue, High palate, Cleft palate OMIM:616580
Noonan Syndrome 1
High, narrow palate, Hypogonadism, Cryptorchidism, Cleft palate, High palate, Hypospadias, Male i... OMIM:163950
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, High palate, Cryptorchidism OMIM:234100
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Bardet-Biedl Syndrome
Irregular menstruation, Inflammation of the large intestine, Aplasia/Hypoplasia of the vagina, Ce... ORPHA:110
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Cryptorchidism, Submucous cleft soft palate, Delayed puberty, Pineal cyst OMIM:300967
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of ... ORPHA:264450
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, High, narrow palate, Hypoplastic labia minora, Median cleft palate, Cr... ORPHA:3107
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Cryptorchidism OMIM:620005
Tibial Hemimelia
Ambiguous genitalia, Hypospadias, Cryptorchidism, Cleft palate ORPHA:93322
Kabuki Syndrome 1
Anal stenosis, Anoperineal fistula, Intestinal malrotation, Congenital hypothyroidism, Cryptorchi... OMIM:147920
Hajdu-Cheney Syndrome
Intestinal malrotation, High palate, Hypospadias, Cryptorchidism OMIM:102500
Noonan Syndrome
Hypogonadotropic hypogonadism, High palate, Delayed menarche, Cryptorchidism ORPHA:648
Larsen Syndrome
Cryptorchidism, Cleft palate OMIM:150250
Microphthalmia, Syndromic 6
Small scrotum, Abnormality of the hypothalamus-pituitary axis, Bifid uvula, Microglossia, Cryptor... OMIM:607932
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Duodenal atresia, Hypospadias, Cryptorchidism, Microphallus ORPHA:468631
Coffin-Siris Syndrome
Hypospadias, Cryptorchidism, Papillary thyroid carcinoma ORPHA:1465
Distal 22Q11.2 Microduplication Syndrome
Macroglossia, High palate, Anal atresia, Cryptorchidism ORPHA:261337
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Furrowed tongue, Cryptorchidism, High palate, Hypospadias, Duodenal atresia OMIM:616975
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Catel-Manzke Syndrome
Bifid uvula, Cryptorchidism, High palate, Glossoptosis, Cleft palate OMIM:616145
Aymé-Gripp Syndrome
Breast hypoplasia, Cryptorchidism, Cleft palate ORPHA:1272
Omodysplasia 1
Cryptorchidism OMIM:258315
Acrocallosal Syndrome
Bifid uvula, Protruding tongue, Cryptorchidism, Anal atresia, Micropenis, High palate, Rectovagin... OMIM:200990
Cohen-Gibson Syndrome
Cryptorchidism OMIM:617561
Cockayne Syndrome A
Irregular menstruation, Hypogonadism, Cryptorchidism, Thymic hormone decreased, Anhidrosis, Micro... OMIM:216400
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Anal stenosis, Malrotation of small bowel, Anteriorly placed... OMIM:606170
Hypotonia, Ataxia, And Delayed Development Syndrome
Micropenis, Cryptorchidism OMIM:617330
Ulbright-Hodes Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Maternal ... ORPHA:3404
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Breast hypoplasia, Cryptorchidism, Hypothy... ORPHA:506358
Orofaciodigital Syndrome Xiv
Anteriorly placed anus, Hamartoma of tongue, Cryptorchidism, Epispadias, Aplasia of the epiglotti... OMIM:615948
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:352665
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Decreased testicular size, Delayed puberty, Hypospadias, Cryptorchidism ORPHA:459070
Meckel Syndrome, Type 1
Abnormality of the uterus, Intestinal malrotation, Ambiguous genitalia, female, External genital ... OMIM:249000
Jacobsen Syndrome
Annular pancreas, Intestinal malrotation, Cryptorchidism, Ectopic anus, Abnormality of the anus, ... ORPHA:2308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Uterus didelphys, Cryptorchidism, Ectopic anus, Ambiguous genitalia, Anal atresia, Esophageal atr... ORPHA:93271
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Cryptorchidism, Micropenis, High palate, Hypospadias, Clitoral hypoplasia OMIM:609945
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Panc... ORPHA:99889
Microphthalmia With Limb Anomalies
High palate, Cryptorchidism, Cleft palate ORPHA:1106
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Micropenis, Cleft pal... ORPHA:83617
Fetal Akinesia Deformation Sequence 1
High, narrow palate, High palate, Cryptorchidism, Cleft palate OMIM:208150
Fraser Syndrome 1
Clitoral hypertrophy, Abnormal small intestine morphology, Cryptorchidism, Micropenis, Abnormalit... OMIM:219000
Pseudoaminopterin Syndrome
High palate, Cryptorchidism ORPHA:221120
Townes-Brocks Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Anteriorly placed anus, Cry... ORPHA:857
Townes-Brocks Syndrome 1
Anal stenosis, Bifid scrotum, Cryptorchidism, Hypothyroidism, Tracheoesophageal fistula, Rectoper... OMIM:107480
Rothmund-Thomson Syndrome Type 2
High palate, Cryptorchidism, Cleft palate ORPHA:221016
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypogonadism, Decreased testicular size, Cryptorchidism, Protruding tongue, Microp... OMIM:309580
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Hypogonadotropic... ORPHA:138
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
High, narrow palate, Bilateral cryptorchidism, Supernumerary nipple, Cryptorchidism, Delayed pube... ORPHA:466791
Tetrasomy 9P
Bifid uvula, Absent gallbladder, Cryptorchidism, Median cleft palate, Oligozoospermia, Micropenis... ORPHA:3310
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Delayed puberty, Cholelithiasis ORPHA:2072
Poland Syndrome
Hypospadias, Cryptorchidism, Diabetes mellitus ORPHA:2911
1P36 Deletion Syndrome
Annular pancreas, Abnormal female external genitalia morphology, Hypogonadism, Cryptorchidism, Ab... ORPHA:1606
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Cryptorchidism, Hiatus hernia, Abnormal duodenum morphology, High palate,... OMIM:601776
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Supernumerary nipple, Cryptorchidism, Pancreatic islet-cell hyperplasia, Mac... ORPHA:373
Neurofibromatosis Type 1
Precocious puberty, Pheochromocytoma, Cryptorchidism, Gastrointestinal stroma tumor, Delayed pube... ORPHA:636
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micropenis, High palate, Hypospadias, Cryptorchidism OMIM:309590
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Cryptorchidism, Short hard palate, Hypoplastic labia majora, Micropenis, Macroglos... OMIM:180700
Floating-Harbor Syndrome
Varicocele, Glandular hypospadias, Cryptorchidism, Celiac disease, Epididymal cyst, Hypospadias OMIM:136140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Uterine prolap... ORPHA:438213
Charge Syndrome
Anal stenosis, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to gr... OMIM:214800
Carpenter Syndrome 2
High, narrow palate, Narrow palate, Bilateral cryptorchidism, Supernumerary nipple, Cryptorchidis... OMIM:614976
Ctcf-Related Neurodevelopmental Disorder
Hypoplastic labia majora, Cleft palate, Cryptorchidism, Phimosis ORPHA:363611
Norrie Disease
Uterine rupture, Cryptorchidism, Delayed puberty, Erectile dysfunction, Diabetes mellitus ORPHA:649
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Abnormal circulating calcium-phosphate regulating hormone concentration, Cryptorchid... ORPHA:2636
Cornelia De Lange Syndrome
Volvulus, Abnormality of the uterus, Intestinal malrotation, Cryptorchidism, High palate, Hypopla... ORPHA:199
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Cryptorchidism, Chordee, High palate, Hydrocele testis, Hypospadias OMIM:619522
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Narrow palate, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples... OMIM:276820
Microphthalmia, Syndromic 2
Bifid uvula, Adrenal insufficiency, Septate vagina, Cryptorchidism, Submucous cleft hard palate, ... OMIM:300166
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Celiac disease, Epididymal cyst, Hypospadias ORPHA:2044
Femoral-Facial Syndrome
Cryptorchidism, Hypoplastic labia majora, Maternal diabetes, Micropenis, Cleft palate OMIM:134780
Beckwith-Wiedemann Syndrome
Macroglossia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Adrenocortical cyt... ORPHA:116
Peters Plus Syndrome
Intestinal fistula, Congenital hypothyroidism, Cryptorchidism, Anal atresia, Cleft palate, Hypopl... ORPHA:709
Cystinosis, Nephropathic
Male hypogonadism, Exocrine pancreatic insufficiency, Primary hypothyroidism, Hypohidrosis, Delay... OMIM:219800
Wrinkly Skin Syndrome
High palate, Cryptorchidism ORPHA:2834
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:3455
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Bifid scrotum, Supernumerary nipple, Cryptorchidism, Submuc... OMIM:235730
Lowe Oculocerebrorenal Syndrome
Cryptorchidism OMIM:309000
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Xerostomia, Abnormal salivary gland morphology, Cryptorchidism, Lacrimal gland aplas... ORPHA:2363
Pachydermoperiostosis
Peptic ulcer, Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Colonic diverticula, Anteriorly placed anus, Exocrine pancreatic insufficie... OMIM:243800
Wrinkly Skin Syndrome
High palate, Cryptorchidism OMIM:278250
Menke-Hennekam Syndrome 1
High palate, Cryptorchidism, Cleft palate OMIM:618332
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Cleft palate OMIM:256520
Wiedemann-Rautenstrauch Syndrome
Long penis, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level, Hypospa... OMIM:264090
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Primrose Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Delayed puberty, High palate, Diabetes ... OMIM:259050
Branchiooculofacial Syndrome
Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Hypospadias, Malrotation of colon, C... OMIM:113620
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating prolactin c... ORPHA:79318
Otopalatodigital Syndrome, Type Ii
Hypospadias, Cryptorchidism, Cleft palate OMIM:304120
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Aganglionic megacolon, Hypohidrosis, Hypospadias, Cleft palate OMIM:308205
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, High palate, Bicornuate ... OMIM:268300
Microphthalmia, Syndromic 1
High, narrow palate, Cryptorchidism, Aganglionic megacolon, Anal atresia, High palate, Hypospadia... OMIM:309800
Cystic Fibrosis
Exocrine pancreatic insufficiency, Ileus, Rectal prolapse, Pancreatitis, Steatorrhea, Meconium il... OMIM:219700

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

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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

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