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Gene: Gnrhr MGI:95790

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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:
gonadotropin releasing hormone receptor
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 Gnrhr 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 Gnrhr by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Spar... OMIM:146110

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
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
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
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
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te... OMIM:614897
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 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
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
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
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... ORPHA:168563
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Unilateral renal agenesis, Sparse pubic hair, Decreased serum testosterone concent... OMIM:308700
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficie... OMIM:308750
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentra... OMIM:300869
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Sparse axillary hair, Decreased ... ORPHA:52901
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... ORPHA:163976
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
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
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... OMIM:612964
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
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
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Abnorma... OMIM:620103
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo... OMIM:612965
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
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 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogon... OMIM:614840
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
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Cryptorchidism, Te... OMIM:615542
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Micropenis, Decreased serum... OMIM:614962
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Micropenis, Obesity OMIM:615983
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Nephrotic syndrome, Streak ovary, ... ORPHA:347
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test, Micropenis, Reduced circulating growth hor... OMIM:612781
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Deleted in azoospermia
Azoospermia OMIM:400003
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Hypogonadism, Decreased testicular size, Cryptorchidism, Tru... ORPHA:261483
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:607080
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Thick eyebrow, Cryptorchidism OMIM:309585
Spastic Paraparesis And Deafness
Hypogonadism OMIM:312910
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonadal dysgenesi... ORPHA:243
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Hao-Fountain Syndrome
Premature adrenarche, Micropenis, Cryptorchidism OMIM:616863
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidn... OMIM:601076
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Spar... OMIM:146110
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Increased circulating dehydroepiandrost... OMIM:158330
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Low posterior hairline, Abnormal hair quantity, Abnor... ORPHA:2233
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... ORPHA:314478
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism ORPHA:1014
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Renal cyst OMIM:615982
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Obesity, Cryptorchidism, Hypogonadotr... OMIM:610628
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
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
Spastic Paraparesis-Deafness Syndrome
Hypogonadism ORPHA:2815
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... OMIM:264600
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism ORPHA:1383
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... ORPHA:3044
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism, Obesity ORPHA:3055
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Tall stature, Obesity, Female ... ORPHA:91
Gordon Holmes Syndrome
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... OMIM:212840
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Abnormality of... ORPHA:2234
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Ovarian Dysgenesis 1
Primary amenorrhea, Increased circulating gonadotropin level, Gonadal dysgenesis OMIM:233300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Alopecia, Small for gestational age, Insulin-resistant diabetes mellit... ORPHA:2959
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Secondary ameno... OMIM:301033
Spermatogenic Failure 17
Male infertility OMIM:617214
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal insufficiency, O... OMIM:615993
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility OMIM:604931
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Mehmo Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... ORPHA:85282
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren... OMIM:615989
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Invasive Mole
Menometrorrhagia ORPHA:99925
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... ORPHA:90795
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... OMIM:275400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Urinary incontinence, Hypothalami... ORPHA:2495
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse axillary hair, Elevated... OMIM:300068
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Image Syndrome
Hypogonadism, Cryptorchidism, Hydronephrosis, Adrenal hypoplasia, Hypospadias ORPHA:85173
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:363741
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615269
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Thick eyebrow, Cryptorchidism, Truncal obesity ORPHA:3459
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, High palate, Increased circulating gonado... OMIM:110100
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, Pancreatic hyp... OMIM:137920
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:752
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Premature adrenarche, Small pituitary gland, Decreased circula... ORPHA:739
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Obesity OMIM:615981
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Polycystic Ovary Syndrome 1
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Proteinuria, Bicornuate uterus, Primary amenorrhea OMIM:191830
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... ORPHA:3363
47,Xyy Syndrome
Varicocele, Tall stature, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligoz... ORPHA:8
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus ORPHA:2578
Young Syndrome
Azoospermia OMIM:279000
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Primary amenorrhea, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size OMIM:614858
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Hirs... ORPHA:2795
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia ORPHA:99928
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Renal salt wasting, Abnormal cir... ORPHA:90794
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
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
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Meckel Syndrome 12
Bifid uvula, Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus, Ureteral hypoplasia OMIM:616258
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Hypopigmentation of hair ORPHA:177910
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Brittle h... ORPHA:202
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia OMIM:617914
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis OMIM:301900
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Hirsutism, Abdominal ... OMIM:209900
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Low posterior hairline, Sparse facial hair, Absent facial hair, Abnormality... ORPHA:2183
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Endocardial Fibroelastosis
Hypoplasia of penis, Anterior hypopituitarism, Cryptorchidism ORPHA:2022
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619310
Perrault Syndrome 5
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:616138
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty,... OMIM:615866
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, H... ORPHA:478
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Urinary urgency OMIM:609195
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Delayed pubert... OMIM:300148
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615266
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Cryptorchidism, Renal insufficiency, Displacement of the uret... ORPHA:2377
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:1621
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... OMIM:618187
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Hypogonadotropic hypogonadism, Decreased ... OMIM:600955
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate OMIM:612370
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hy... OMIM:618419
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Gordon Syndrome
High palate, Cryptorchidism, Cleft palate ORPHA:376
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
Popliteal Pterygium Syndrome
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... OMIM:119500
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Conductive Deafness-Malformed External Ear Syndrome
Hypogonadism, High palate ORPHA:3216
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, High palate ORPHA:2528
Non-Syndromic Posterior Hypospadias
Urethral diverticulum, Bifid scrotum, Androgen insufficiency, Cryptorchidism, Displacement of the... ORPHA:95706
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Ziegler-Huang Syndrome
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... OMIM:620501
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Proteinuria, Hematuria, Hirsutism, Membranoproliferative glomerulonephritis, ... OMIM:608709
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Absent s... ORPHA:495875
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe... ORPHA:254516
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
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
Spinocerebellar Ataxia, Autosomal Recessive 16
Hypogonadism OMIM:615768
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:502430
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Decreased serum insulin-like growth factor 1, Del... ORPHA:79239
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Polycystic ovaries, Sparse hair, Secondary amenorrhea, Hyper... OMIM:268020
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Hydron... OMIM:615996
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Renal insufficiency OMIM:618681
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal circulating androgen level, Increased circulating ACTH level, Abnormal female external g... ORPHA:90790
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Ovotestis, Chordee, Anal atresia, ... OMIM:309801
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ... ORPHA:95496
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Nocturia ORPHA:2073
Wagr Syndrome
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Hemochromatosis, Type 1
Impotence, Alopecia, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, ... OMIM:235200
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Whim Syndrome 1
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia OMIM:193670
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux,... OMIM:617805
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398079
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism ORPHA:250994
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Morm Syndrome
Micropenis, Truncal obesity ORPHA:75858
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism, Obesity OMIM:300238
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Premature Ovarian Failure 12
Primary amenorrhea OMIM:616947
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Moynahan Syndrome
Hypogonadism ORPHA:2574
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge... ORPHA:528
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypoplasia of the uterus, Bic... OMIM:601186
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:244200
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... OMIM:616222
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Tall stature, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:10
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... OMIM:614963
Diencephalic Syndrome
Cachexia, Long penis, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism OMIM:616681
Urban-Rogers-Meyer Syndrome
Hypogonadism, Abnormality of the ureter, Obesity, Cryptorchidism, Hypoplasia of penis ORPHA:3409
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Robinow Syndrome
Webbed penis, Small scrotum, Multicystic kidney dysplasia, High anterior hairline, Decreased seru... ORPHA:97360
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Horseshoe kidney, Crossed fused renal ectopia, Cryp... ORPHA:3097
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Cryptorchidism, Hydroneph... ORPHA:1655
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Type II diabetes ... ORPHA:100
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Hypogonadism, Abnormal stomach morphology, Renal insufficiency, Crypto... ORPHA:281090
Megalencephaly
Macroorchidism, Long penis, Truncal obesity ORPHA:2477
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Trisomy 5P
Hypoplasia of penis, Obesity ORPHA:1742
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Absence of pubertal development OMIM:615267
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Thick eyebrow, Cryptorchidism, Truncal ob... ORPHA:127
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism OMIM:160900
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hypoplasia o... ORPHA:2849
Mmep Syndrome
Cryptorchidism ORPHA:3434
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism OMIM:300982
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Hypogonadism, Decreased testicular size, Long eyelashes, Cryptorchidism, L... OMIM:300882
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Type I diabetes mellitus, Cryptorchidism, Proteinuria, Nephrotic syndrome ORPHA:1192
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... OMIM:604367
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hyperi... OMIM:262190
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Microphthalmia, Syndromic 12
Intestinal malrotation, Bicornuate uterus, Cryptorchidism, Cleft palate OMIM:615524
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Cleft palate, Decreased testicular size OMIM:614838
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Anal atresia, Hypospadias, Cryptorchidism ORPHA:1381
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Abnormality of the uterus, Decrease... ORPHA:2970
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate OMIM:258320
Mckusick-Kaufman Syndrome
Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Hydronephrosis, Vaginal... OMIM:236700
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Congenital hypothyroidism, Obesity, Cryptorchidism, Red hair, Hypospadias, Diabetes me... OMIM:614613
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Delayed puberty OMIM:615270
Bone Marrow Failure Syndrome 5
Testicular atrophy, Nail dystrophy, Hypogonadism OMIM:618165
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis OMIM:615238
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Microphallus, Abnormal scrotum morphology, Cryptorchidism, Dysmenorrhea, Hypothyro... ORPHA:397590
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas ORPHA:145
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Decreased testicular size, Hypogonadotropic hypogonadism, Primary amen... OMIM:604168
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism OMIM:251240
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell... OMIM:601820
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... ORPHA:2237
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypercalciuria, Adrenal hy... OMIM:614732
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Impotence, Abnormality of endocrine pancreas physiology, Diabetes mellitus ORPHA:79230
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Decreased testicular size, Cryptorchidism, Delayed puberty, Abdominal obesity, Micr... OMIM:300354
Duplication Of Urethra
Urinary incontinence, Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Anuria, Dysuria, Rec... ORPHA:237
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cryptorchidism OMIM:250951
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Multicystic kidney dysplasia, Cryptorchidism ORPHA:3301
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Cryptorchidism, Synophrys ORPHA:589905
Mosaic Trisomy 14
Cryptorchidism, Ectopic anus, High palate, Hypoplasia of penis, Hypospadias, Cleft palate ORPHA:1703
Frasier Syndrome
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k... OMIM:136680
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Hypoplastic male external genitalia, Cryptorchidism OMIM:618823
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
46,Xx Sex Reversal 1
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Azoospermia, True hermaphro... OMIM:400045
Non-Acquired Isolated Growth Hormone Deficiency
Microphallus, Delayed puberty, Abdominal obesity, Sparse hair, Anterior hypopituitarism ORPHA:631
Chromosome 15Q26-Qter Deletion Syndrome
Micropenis, Hypospadias, Cryptorchidism OMIM:612626
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism OMIM:608540
Hemochromatosis, Type 2B
Hypogonadism, Secondary amenorrhea OMIM:613313
Li-Campeau Syndrome
Micropenis, Hypothyroidism, Cryptorchidism OMIM:619189
Schaaf-Yang Syndrome
Hypogonadism, Failure to thrive in infancy, Obesity, Thick eyebrow, Cryptorchidism, Micropenis OMIM:615547
Congenital Primary Megaureter
Abnormal penis morphology, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Congenital meg... ORPHA:617
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Uterus didelphys, Cryptorchidism ORPHA:1756
Alazami-Yuan Syndrome
High palate, Cryptorchidism OMIM:617126
Björnstad Syndrome
Hypogonadism ORPHA:123
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity, Cryptorchidism OMIM:615633
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Hypogonadotropic hyp... OMIM:616113
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, Truncal obesit... ORPHA:96184
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Abnormali... ORPHA:1173
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Cednik Syndrome
Hypogonadism, Nephrotic syndrome, Proteinuria ORPHA:66631
Intellectual Disability, Wolff Type
Abnormal intestine morphology, Hypospadias, Cryptorchidism ORPHA:3080
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increa... ORPHA:398069
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Delayed puberty, Cryptorchidism ORPHA:486815
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism OMIM:613970
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia ORPHA:2141
Non-Distal Duplication 10Q
High palate, Cryptorchidism ORPHA:1695
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, High palate, Furrowed tongue, Cryptorchidism ORPHA:1387
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Bilateral cryptorchidism OMIM:617564
Steinert Myotonic Dystrophy
Early balding, Male hypogonadism, Cholelithiasis, Impotence, Alopecia, Decreased response to grow... ORPHA:273
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity ORPHA:293964
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Anal atresia, Cryptorchidism, Supernumerary nipple OMIM:619243
Luscan-Lumish Syndrome
Irregular menstruation, High anterior hairline, Obesity, Polycystic ovaries, Hirsutism, Overgrowth OMIM:616831
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary amenorrhea, Micropenis, C... OMIM:147950
Retinitis Pigmentosa 59
Micropenis, Renal insufficiency, Cryptorchidism OMIM:613861
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Tall stature, Premature ovarian insufficiency, ... ORPHA:3375
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:319332
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst... OMIM:140000
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
2P21 Microdeletion Syndrome
Hypogonadism, Cystinuria, Nephrolithiasis ORPHA:163693
Wolfram Syndrome 1
Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Testicular atrophy, Diabetes ins... OMIM:222300
Fetal Akinesia Deformation Sequence 4
High palate, Cryptorchidism OMIM:618393
Coffin-Siris Syndrome 8
Cryptorchidism OMIM:618362
Chung-Jansen Syndrome
Obesity, Thick eyebrow, Cryptorchidism, Synophrys OMIM:617991
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Cryptorchidism, High palate, Anal atresia, Anterior hypopituitarism ORPHA:2863
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism OMIM:618766
Spinal Muscular Atrophy, X-Linked 2
Micropenis, Hypospadias, Cryptorchidism OMIM:301830
Trisomy 4P
Hypospadias, Cryptorchidism ORPHA:1738
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism ORPHA:238722
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, ... ORPHA:3306
Camptobrachydactyly
Septate vagina ORPHA:1319
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Autosomal Recessive Amelia
Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:1027
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:619737
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Chromosome 1P35 Deletion Syndrome
Congenital hypothyroidism, Cryptorchidism, High palate OMIM:617930
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Hypospadias, Cryptorchidism OMIM:618815
Distal Deletion 10P
Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate ORPHA:1580
Branchial Arch Syndrome, X-Linked
High, narrow palate, High palate, Cryptorchidism OMIM:301950
Senior-Loken Syndrome 9
Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephr... OMIM:616629
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Tall stature, Type II diabet... ORPHA:96263
Cofs Syndrome
Hypogonadism ORPHA:1466
Lig4 Syndrome
Failure to thrive, Type II diabetes mellitus, Cryptorchidism, Low anterior hairline, Amenorrhea, ... OMIM:606593
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism ORPHA:2958
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Amenorrhea OMIM:604250
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Large for gestational age, Tall stature, Overgrowth ORPHA:137634
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... OMIM:202110
X-Linked Intellectual Disability, Seemanova Type
Hypogonadism, High palate, Cryptorchidism ORPHA:85323
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Tall stature, Cryptorchidism, Hydronephrosis, M... ORPHA:1926
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Ulnar-Mammary Syndrome
Renal hypoplasia, Abnormality of the uterus, Breast aplasia, Obesity, Decreased fertility, Crypto... ORPHA:3138
Clark-Baraitser syndrome
Tall stature, Macroorchidism, Obesity OMIM:300602
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Vaginal atresia, Hypoplastic labia majora, Fused labia minora OMIM:207410
Proximal Xq28 Duplication Syndrome
Hypospadias, Cryptorchidism ORPHA:1762
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Hypospadias, Cryptorchidism OMIM:300997
Microcephaly 27, Primary, Autosomal Dominant
Micropenis, Cryptorchidism OMIM:619180
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Adrenal i... OMIM:617575
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Hypertrichosis, Hyperinsulinemia, Ovarian c... OMIM:246200
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Abnormality of the adrenal glands, Hypospa... ORPHA:139466
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Micropenis, Decreased testicular size, Overweight, Decreased response to growth hormone stimulati... ORPHA:457240
Arthrogryposis, Distal, Type 1C
Bifid uvula, High palate, Cryptorchidism, Cleft palate OMIM:619110
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:168593
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Cryptorchidism OMIM:619908
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Stt3A-Cdg
Micropenis, Small scrotum, Cryptorchidism ORPHA:370921
Prieto Syndrome
Cryptorchidism OMIM:309610
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, High palate OMIM:615433
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Fetal Akinesia Deformation Sequence 2
High palate, Cryptorchidism, Cleft palate OMIM:618388
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Obesity, Macroorchidism OMIM:300055
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Stt3B-Cdg
Micropenis, Small scrotum, Cryptorchidism ORPHA:370924
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Bifid scrotum ORPHA:93328
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:2772
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Cryptorchidism OMIM:273390
Camptobrachydactyly
Urinary incontinence, Septate vagina OMIM:114150
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Small scrotum, Cryptorchidism OMIM:615597
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypospadias ORPHA:171839
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Joubert Syndrome 37
Decreased testicular size, Obesity, Cryptorchidism, Hydronephrosis, Micropenis, Sparse hair OMIM:619185
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia, Obesity OMIM:600151
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Increased circulating ACTH leve... OMIM:607398
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Adrenocortical Carcinoma
Increased circulating cortisol level, Abnormality of reproductive system physiology, Hypertrichos... ORPHA:1501
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Polycystic ovaries, Truncal obesity, Macroorchidism, Sparse hair ORPHA:284180
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Interstitial Cystitis
Functional abnormality of the bladder, Abnormal vagina morphology, Abnormality of the urethra, Ur... ORPHA:37202
Preeclampsia
Chronic kidney disease, Type I diabetes mellitus, Acute kidney injury, Renal insufficiency, Polyc... ORPHA:275555
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena... OMIM:613390
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Cryptorchidism, Hydronephrosis, Urethral valve, Enuresis OMIM:236730
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism OMIM:604317
Renal Agenesis
Unilateral renal agenesis, Absent vas deferens, Aplasia/hypoplasia of the uterus, Ureteral agenes... ORPHA:411709
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Tall stature, Obesity, Shawl scrotum, Micropenis OMIM:620439
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptor... ORPHA:2473
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Diabetes mellitus, Cryptorchidism OMIM:249270
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Leopard Syndrome 1
Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of ... OMIM:151100
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Obesity, Vesicoureteral reflux, Cryptorchidism, Pseudohypoparathyroidism, Abnor... ORPHA:464288
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Ruvalcaba Syndrome
Delayed puberty, Cryptorchidism OMIM:180870
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Nephrotic syndrome, Abnormal urinary electrolyte concentration, Hypogonadism, Noctur... ORPHA:85450
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Carpenter Syndrome
Abnormal reproductive system morphology, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:65759
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Low urinary cyclic AMP response to ... OMIM:103580
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ambiguous gen... OMIM:300219
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, High palate, Cleft palate ORPHA:1135
Birk-Aharoni Syndrome
Micropenis, Cryptorchidism OMIM:620071
Congenital Muscular Dystrophy With Intellectual Disability
Micropenis, Abnormality of the tongue muscle, Cryptorchidism ORPHA:370968
Imagawa-Matsumoto Syndrome
Cryptorchidism, Anteriorly placed anus OMIM:618786
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Nephrocalcinosis, Insulin-resistant diabete... ORPHA:769
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism OMIM:616910
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Dysmenorrhea, Polycystic ovaries, Generalized hirsutism, Oli... ORPHA:79083
Distal Duplication 15Q
Abnormal female external genitalia morphology, High palate, Anal atresia, Cryptorchidism ORPHA:1707
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis, Cryptorchidism, Shawl scrotum ORPHA:2256
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism OMIM:302950
Camurati-Engelmann Disease, Type 2
Hypogonadism, Delayed puberty OMIM:606631
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cryptorchidism OMIM:620135
15Q24 Microdeletion Syndrome
High anterior hairline, Failure to thrive, Microphallus, Decreased response to growth hormone sti... ORPHA:94065
Acrocallosal Syndrome
Hypospadias, Cryptorchidism ORPHA:36
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis ORPHA:722
Bardet-Biedl Syndrome
Chronic kidney disease, Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Polycystic o... ORPHA:110
Prader-Willi Syndrome
Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Frontal upsweep of ha... OMIM:176270
Abruzzo-Erickson Syndrome
Hypospadias, Cryptorchidism, Cleft palate, Coronal hypospadias ORPHA:921
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Horseshoe kidney, Nail dystrophy, Hirsutism, Increased body weight, Low post... OMIM:300860
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,... OMIM:613762
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... OMIM:181450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Micropenis, Perianal abscess, Cryptorchidism OMIM:614684
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Alopecia, Decreased testicular size, Hypoplasia of the ovary, Abdominal obesity... OMIM:619321
Macrocephaly/Autism Syndrome
Coarse hair, Obesity, Penile freckling, Large for gestational age, Overgrowth, Hydrocele testis OMIM:605309
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:79237
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Decreased testicular size, High palate, Cryptorchidism ORPHA:85279
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71526
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Diabetes mellitus, Cryptorchidism OMIM:615381
Congenital Myopathy 19
Hydronephrosis, High palate, Cryptorchidism OMIM:618578
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Small scrotum, Hypoplasia of penis ORPHA:2983
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Insulin-resistant diabetes mellitus OMIM:613877
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis, Ureteral duplication, Hypospadias OMIM:617516
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... ORPHA:2298
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Abnormality of the hairline OMIM:248450
Xq12-Q13.3 Duplication Syndrome
Decreased serum insulin-like growth factor 1, Cryptorchidism ORPHA:314389
Microphthalmia, Syndromic 8
Cryptorchidism, Cleft palate OMIM:601349
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
High palate, Cryptorchidism ORPHA:178148
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:1263
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Abnormal morphology of female internal genitalia, Hematuria, Sparse hair ORPHA:1839
Peters Plus Syndrome
Multicystic kidney dysplasia, Intestinal fistula, Congenital hypothyroidism, Cryptorchidism, Hydr... ORPHA:709
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Cryptorchidism OMIM:611890
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Shawl scrotum, Di... ORPHA:261265
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Failure to thrive, Renal tubular acidosis, Dysmenorrhea, Polycystic ovari... ORPHA:264580
Neurofibromatosis-Noonan Syndrome
Cryptorchidism ORPHA:638
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia of penis, D... ORPHA:3157
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Cryptorchidism OMIM:618504
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of penis, Bifid scrotum, Synophrys ORPHA:1295
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Rin2 Syndrome
Premature ovarian insufficiency, High palate, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:217335
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Cryptorchidism, Cleft palate ORPHA:1166
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Aminoaciduria OMIM:273400
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism OMIM:600118
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Cryptorchidism ORPHA:228390
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Abnormal vagina morphology ORPHA:2123
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Generalized hirsutism, Polycystic ovaries, Diabetes mellitus, Secondary amenorrhea ORPHA:2348
Johanson-Blizzard Syndrome
Alopecia, Abnormal vagina morphology, Failure to thrive, Abnormality of the female genitalia, Hyd... ORPHA:2315
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hy... OMIM:241410
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Cryptorchidism OMIM:618577
Femoral-Facial Syndrome
Long penis, Cryptorchidism, Maternal diabetes, Polycystic kidney dysplasia, Cleft palate ORPHA:1988
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoinsulinemia, Large for gestational age, Obesity, Truncal obesity OMIM:240900
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Vaginal atresia, Hypoplasia ... OMIM:273395
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Decreased testicular size, Obesity, Cachexia, Abnormal hair pattern, Hypoplasia of ... ORPHA:85293
Distal Duplication 18Q
Abnormal female external genitalia morphology, Hypoplasia of penis, Cryptorchidism, High palate ORPHA:1716
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Metrorrhagia, Weight loss, Ovarian... ORPHA:370348
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism OMIM:272440
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Cleft palate, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:250999
Riboflavin Transporter Deficiency
Hypogonadism, Diabetes insipidus ORPHA:97229
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Insulin-resistant diabetes mellitus, Decreased testicular size, Cryptorchidism, Hypo... ORPHA:293967
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi... OMIM:615926
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... OMIM:615109
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Cryptorchidism, Micropenis, Hypospadias ORPHA:2872
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Verloove Vanhorick-Brubakk Syndrome
Cleft palate, Abnormality of the parathyroid gland, Cryptorchidism ORPHA:3429
Acrofacial Dysostosis, Catania Type
Hypospadias, Cryptorchidism, Cleft palate OMIM:101805
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Hypogonadism, Premature ovarian insufficiency, Abnormality of the thyroid gland, Diabetes mellitus OMIM:609286
Caudal Regression Syndrome
Abnormality of the ureter, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Ambiguous ... ORPHA:3027
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia ORPHA:1797
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Hypothyroidism, Protein-losing enteropathy, Cryptorchidism OMIM:608104
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Obesity, Proteinuria, Micropenis OMIM:619471
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Richards-Rundle Syndrome
Ketonuria, Hypergonadotropic hypogonadism ORPHA:1399
Weaver Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:3447
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Failure to thrive, Abnormality of the uterus, Horseshoe kidne... ORPHA:2470
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Hypogonadism, Cryptorchidism, Micropenis, Overweight ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, Low anterior hairline, Hypothyroidism, Overweight, Smal... OMIM:617796
Omodysplasia 2
Uterus didelphys, Cryptorchidism, Cleft palate, Dyspareunia, Labial hypoplasia, Micropenis, Hypos... OMIM:164745
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:452
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation, Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Alg6-Cdg
Puberty and gonadal disorders, Protein-losing enteropathy, Increased circulating androgen concent... ORPHA:79320
Orofaciodigital Syndrome Type 4
High, narrow palate, Bifid uvula, Decreased testicular size, Primary adrenal insufficiency, Perin... ORPHA:2753
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatou... OMIM:617100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Renal tubular acidosis, Dysmenorrhea, Polycystic ovaries, Increased body ... ORPHA:79240
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Oculocerebrocutaneous Syndrome
Cryptorchidism, Cleft palate OMIM:164180
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Bifid scrotum, Renal insufficiency, Cryptorchidism, Hypothyroidism, Hypoplasia ... ORPHA:85321
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism ORPHA:466926
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis OMIM:300406
Distal Monosomy 7Q36
Hypoplasia of penis, Cryptorchidism, Cleft palate ORPHA:1636
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney... OMIM:614527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Micropenis, Macroglossia, Cryptorchidism OMIM:613156
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Decreased testicular size, Cryptorchidism, 3-Methylglutaconic aciduria... OMIM:610198
Lead Poisoning
Chronic kidney disease, Decreased male libido, Abnormality of the menstrual cycle, Decreased circ... ORPHA:330015
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Microgastria, Horseshoe kidney, Intestinal malrotation, Crossed fus... ORPHA:2538
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Hypospadias OMIM:619718
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
Hermansky-Pudlak Syndrome 6
Perineal fistula, Endometriosis, Neurogenic bladder, Urinary incontinence, Anal atresia OMIM:614075
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Trisomy 13
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Disp... ORPHA:3378
Mcdonough Syndrome
Cryptorchidism ORPHA:2471
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... ORPHA:412057
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Decreased testicular size, External genital hypoplasia, Micropenis, High palate ORPHA:3041
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricosuria, Nephrocalcinosis, Nephrolithiasis OMIM:300322
Fraser Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Extension of hair growth on temples to lateral eyebrow, C... OMIM:219000
Multifocal Atrial Tachycardia
Hypothyroidism, Cryptorchidism ORPHA:3282
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Sparse pubic hair, Sparse... OMIM:604292
Ochoa Syndrome
Urethral obstruction, Vesicoureteral reflux, Cryptorchidism, Renal insufficiency, Hydronephrosis,... ORPHA:2704
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Cryptorchidism OMIM:619797
Apert Syndrome
Vaginal atresia, Hydronephrosis, Cryptorchidism OMIM:101200
Fanconi Anemia, Complementation Group A
Male infertility, Horseshoe kidney, Cryptorchidism, Ectopic kidney, Small for gestational age, Hy... OMIM:227650
8Q22.1 Microdeletion Syndrome
Hypogonadism, Cryptorchidism, Submucous cleft hard palate ORPHA:178303
Rahman Syndrome
Cryptorchidism OMIM:617537
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis ORPHA:335
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, External genital hypoplasia, Cryptorchidism ORPHA:1867
Noonan Syndrome 8
Large for gestational age, Cryptorchidism, Failure to thrive, Curly hair OMIM:615355
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroe... ORPHA:189427
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Obesity, Thick eyebrow, Cryptorchidism, Proportionate tall stature ORPHA:404443
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Menorrhagia ORPHA:168816
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Large for gestational age, Cryptorchidism ORPHA:169189
13Q12.3 Microdeletion Syndrome
Obesity, Cryptorchidism, Failure to thrive ORPHA:412035
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism OMIM:618958
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Bifid scrotum, Abnormal morphology of f... ORPHA:887
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Enuresis, Grade III vesicoureteral reflux, Ureteropelvic junctio... OMIM:619522
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Decreased testicular size, Cryptorchidism, Micropenis, Hypospadias OMIM:300978
Wolfram Syndrome 2
Diabetes insipidus, Oligomenorrhea, Diabetes mellitus, Primary amenorrhea OMIM:604928
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:609757
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Moderate albuminuria, Hypogonadism, External genital hypoplasia, Obesity, Cryptorc... OMIM:614231
Freeman-Sheldon Syndrome
Cryptorchidism ORPHA:2053
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Diabetes mellitus, Cryptorchidism ORPHA:500159
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... OMIM:271520
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Cryptorchidism, Generalized hirsutism, Hypothyroidism, Hypospadias, ... ORPHA:254346
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Cleft palate OMIM:615502
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, ... OMIM:617159
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Septate vagina, Crossed fused renal ectopia, Vesicoureteral re... OMIM:300707
Bachmann-Bupp Syndrome
Large for gestational age, Cryptorchidism, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:619075
Phocomelia, Schinzel Type
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... ORPHA:2879
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, Cryptorchidism, 3-Methylglutaconic aciduria ORPHA:496790
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism OMIM:615419
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism OMIM:620365
Prune Belly Syndrome
Xerostomia, Hydroureter, Cryptorchidism, Hydronephrosis, Anal atresia, Congenital posterior ureth... OMIM:100100
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Hypoplastic nipples, Absent nipple, Cryptorchidism, Male urethral meatus stenosis OMIM:616001
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism ORPHA:85322
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Cryptorchidism ORPHA:1338
Noonan Syndrome 5
Sparse eyebrow, Fine hair, Large for gestational age, Cryptorchidism, Curly hair OMIM:611553
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Hypospadias, Cryptorchidism, Curly hair ORPHA:457485
German Syndrome
High palate, Ambiguous genitalia, Cryptorchidism ORPHA:2077
Qazi-Markouizos Syndrome
High, narrow palate, Cryptorchidism ORPHA:3010
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Hypospadias, Cryptorchidism, Pyloric stenosis OMIM:218350
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism OMIM:618484
Lig4 Syndrome
Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus, Cryptorchidism ORPHA:99812
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Micropenis, Cryptorchidism OMIM:612447
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi... OMIM:158350
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Hypothyroidism, Delayed puberty, Cryptorchidism OMIM:616817
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Primary amenorrhea ORPHA:3220
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias, Cryptorchidism, Abnormal morphology of female internal ge... ORPHA:2311
Cortical Dysplasia, Complex, With Other Brain Malformations 12
High palate, Cryptorchidism OMIM:620316
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Aminopterin Syndrome Sine Aminopterin
High palate, Cryptorchidism, Cleft palate OMIM:600325
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus OMIM:300957
Mirage Syndrome
Microphallus, Esophageal stricture, Decreased testicular size, Adrenal insufficiency, Cryptorchid... OMIM:617053
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Sparse hair, Rectovaginal... OMIM:129900
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus, Cleft palate ORPHA:3320
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Seckel Syndrome 5
Clitoral hypertrophy, Cryptorchidism, High palate, Hypospadias, Cleft palate OMIM:613823
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Horseshoe kidney, High palate, Hypoplastic male external genitalia, Cryptorchidism ORPHA:502434
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormal scrotum morphology, Supernumerary nipple ORPHA:64755
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism OMIM:617788
Smith-Kingsmore Syndrome
Large for gestational age, Cryptorchidism, Curly hair OMIM:616638
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, High palate, Hypoplasia... ORPHA:251066
Renal Nutcracker Syndrome
Varicocele, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval varicose vein, We... ORPHA:71273
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia OMIM:619879
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:2083
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Tall stature, Labial hypertrophy, Hyperinsulinemia, Polycystic ovaries, Nep... OMIM:608594
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Fryns Microphthalmia Syndrome
Unicornuate uterus, Bilateral cleft palate OMIM:600776
Currarino Syndrome
Bifid scrotum, Vesicoureteral reflux, Male pseudohermaphroditism, Hypoplasia of penis, Hypospadias ORPHA:1552
Chand Syndrome
Imperforate hymen, Hydroureter, Curly hair ORPHA:1401
Pde4D Haploinsufficiency Syndrome
Obesity, Hypospadias, Cryptorchidism, Elevated circulating parathyroid hormone level ORPHA:439822
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:228402
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Abnormal... ORPHA:2052
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, mal... ORPHA:2075
Peters-Plus Syndrome
Renal hypoplasia, Anteriorly placed anus, Cryptorchidism, Hydronephrosis, Hypoplastic labia major... OMIM:261540
14Q24.1Q24.3 Microdeletion Syndrome
Intestinal malrotation, Ectopic kidney, Cryptorchidism ORPHA:401935
Ring Chromosome 12 Syndrome
High, narrow palate, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hypothyroidism, Ut... ORPHA:1439
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Small scrotum, Cryptorchidism ORPHA:1970
Congenital Bile Acid Synthesis Defect Type 4
Hypogonadism, Cholelithiasis, Type II diabetes mellitus ORPHA:79095
Marinesco-Sjögren Syndrome
Hypogonadism, External genital hypoplasia ORPHA:559
Chromosome 16Q22 Deletion Syndrome
High palate, Hypospadias, Cryptorchidism OMIM:614541
Nicolaides-Baraitser Syndrome
High, narrow palate, Cryptorchidism, Abnormal testis morphology ORPHA:3051
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism OMIM:620073
Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Hypogonadism, Primary adrenal insufficiency, Urinary incon... OMIM:300100
Microphthalmia With Brain And Digit Anomalies
High palate, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism ORPHA:139471
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Micropenis, Cryptorchidism, Cleft palate OMIM:610125
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Tall stature, Labial hypertrophy, Hyperinsulinemia, Type II diabetes mellit... OMIM:269700
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Tracheoesophageal fistula, Es... OMIM:614083
Limb-Mammary Syndrome
Bifid uvula, Absent nipple, Breast aplasia, Aplasia of the ovary, Submucous cleft soft palate, Ap... ORPHA:69085
Bresek Syndrome
Renal hypoplasia, Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Aganglionic m... ORPHA:85284
Bjornstad Syndrome
Hypogonadism, Anhidrosis OMIM:262000
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Supernumerary nipple OMIM:617635
Allan-Herndon-Dudley Syndrome
Abnormality of thyroid physiology, Cryptorchidism ORPHA:59
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Micropenis, Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple ORPHA:2519
King-Denborough Syndrome
High palate, Cryptorchidism, Bilateral cryptorchidism OMIM:619542
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Renal insufficie... ORPHA:96179
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Cryptorchidism OMIM:618060
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Generalized hirsutism, Hypospadias ORPHA:2505
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Medullary nephrocalcinosis, Cryptorchidism... ORPHA:363528
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Cleft palate ORPHA:1252
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea ORPHA:2975
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Unilateral renal agenesis, Elevated circulating parathyroid hormone level... OMIM:101800
Chronic Mucocutaneous Candidiasis
Hematuria, Dyspareunia, Abnormal vagina morphology ORPHA:1334
Exstrophy-Epispadias Complex
Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Male sexual dysfunction, Bifid... ORPHA:322
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Failure to thrive, Obesity, Vesicoureteral reflux, Renal insufficiency, Cr... ORPHA:96147
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, High palate, Cleft palate OMIM:615102
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Hypospadias, Cryptorchidism, Cleft palate OMIM:603736
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Cryptorchidism, Proteinuria, Hypoplastic nipples, Chordee, Hy... OMIM:300519
Kallmann Syndrome-Heart Disease Syndrome
Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadism, Delayed puber... ORPHA:2326
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Hypogonadism, External genital hypoplasia, Cryptor... ORPHA:2588
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism ORPHA:2701
Non-Distal Duplication 13Q
High palate, Cryptorchidism ORPHA:1702
Cardiac-Urogenital Syndrome
Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia... OMIM:618280
Wagro Syndrome
Proteinuria, Decreased testicular size, Hypoplastic female external genitalia, Obesity OMIM:612469
Hand-Foot-Genital Syndrome
Abnormality of the urethra, Abnormality of the uterus, Ureteropelvic junction obstruction, Vesico... ORPHA:2438
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Micro Syndrome
Cryptorchidism, Hydronephrosis, Delayed puberty, High palate, Hypoplasia of penis, Hypoplastic la... ORPHA:2510
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Hypogonadism, External genital hypoplasia, Cryptorchidism, Submucous cleft hard pala... ORPHA:2250
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Female infertility, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Failu... ORPHA:99413
Mosaic Monosomy X
Alopecia, Female infertility, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Failu... ORPHA:99228
Monosomy X
Alopecia, Female infertility, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Failu... ORPHA:99226
Turner Syndrome
Alopecia, Female infertility, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Failu... ORPHA:881
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum ORPHA:1778
Kleefstra Syndrome 1
Obesity, Cryptorchidism, Micropenis, Hypospadias, Synophrys OMIM:610253
Triploidy
Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Macroglossia, Hypoplasia of penis, H... ORPHA:3376
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Hypospadias, Cryptorchidism, Bifid scrotum OMIM:606851
Isolated Atp Synthase Deficiency
Hypogonadism, Renal hypoplasia, Hypothyroidism, 3-Methylglutaconic aciduria ORPHA:254913
Ruvalcaba Syndrome
Hematuria, Delayed puberty, Cryptorchidism ORPHA:3121
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Hypothyroidism, Diabetes mellitus ORPHA:98673
Fetal Hydantoin Syndrome
Cleft palate, Cryptorchidism, Bifid scrotum ORPHA:1912
Meacham Syndrome
Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina, En... OMIM:608978
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
High palate, Hypospadias, Cryptorchidism ORPHA:98791
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... ORPHA:95494
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Hypogonadism, Decreased testicular size, Cryptorchidism, Hydronephrosis, Mic... OMIM:612513
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria ORPHA:1194
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity, Elevated circulating parathyroid ... OMIM:603233
Waardenburg Syndrome, Type 4C
Hypogonadism, Aganglionic megacolon, Cryptorchidism, Lacrimal gland hypoplasia OMIM:613266
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism ORPHA:88639
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnorma... ORPHA:93111
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism ORPHA:2189
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
High palate, Hypospadias, Cryptorchidism OMIM:300004
Chromosome 18P Deletion Syndrome
Gonadal dysgenesis, Decreased testicular size, Cryptorchidism, Micropenis, High palate OMIM:146390
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body mass inde... OMIM:614450
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:3082
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Premature graying of hair, Dysmenorrhea, Polycystic ovaries, General... ORPHA:280365
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Cryptorchidism ORPHA:1145
Schuurs-Hoeijmakers Syndrome
Volvulus, Cryptorchidism OMIM:615009
Cystic Echinococcosis
Abnormality of the testis size, Ovarian cyst, Renal cyst, Weight loss, Membranous nephropathy ORPHA:400
Oculoskeletodental Syndrome
Protein-losing enteropathy, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism... OMIM:618440
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Large for gestational age, Cryptorchidism, Hydronephrosis... OMIM:610733
Fanconi Anemia, Complementation Group B
Hypogonadism, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Duodenal atresia, Hyperg... OMIM:300514
Warburg Micro Syndrome 4
Micropenis, Small scrotum, Cryptorchidism, Decreased testicular size OMIM:615663
Craniopharyngioma
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesity, Central ad... ORPHA:54595
Noonan Syndrome 9
Hydroureter, Cryptorchidism OMIM:616559
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Elevated circulating thyroid-stimulating hormone concentration, Crypt... OMIM:618183
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism ORPHA:90322
Familial Afibrinogenemia
Menometrorrhagia ORPHA:98880
Distal Triplication 15Q
Horseshoe kidney, Birth length greater than 97th percentile, Large for gestational age, Hydroneph... ORPHA:314588
Currarino Syndrome
Horseshoe kidney, Septate vagina, Vesicoureteral reflux, Neurogenic bladder, Urinary incontinence... OMIM:176450
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Vaginal atresia, Horseshoe kidney, Hydrometrocolpos OMIM:617088
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Ohdo Syndrome
Proteinuria, Small scrotum, Cryptorchidism OMIM:249620
Buratti-Harel Syndrome
Bifid uvula, Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, High pala... OMIM:619314
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Hypospadias, Cryptorchidism ORPHA:435938
Short Stature-Micrognathia Syndrome
Small scrotum, Cryptorchidism, Penoscrotal hypospadias, Micropenis, High palate, Cleft palate OMIM:617164
Zellweger Syndrome
Clitoral hypertrophy, Multicystic kidney dysplasia, Primary adrenal insufficiency, Cryptorchidism... ORPHA:912
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Kbg Syndrome
Cryptorchidism, Cleft palate ORPHA:2332
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Failure to thrive, Large for gestational age, Vesicoureteral reflux, Overgrowth ORPHA:261652
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... ORPHA:276608
Diphallia
Penoscrotal transposition, Bifid scrotum, Duplicated colon, Horseshoe kidney, Ectopic scrotum, Di... ORPHA:227
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of penis, Hypospadias ORPHA:77298
Werner Syndrome
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Decreased fertility, Aplasia/Hypoplas... ORPHA:902
Aarskog-Scott Syndrome
Cleft palate, Cryptorchidism, Shawl scrotum ORPHA:915
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Micropenis, Small scrotum, Cryptorchidism, Microphallus OMIM:300486
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, High palate ORPHA:2115
Oeis Complex
Hydroureter, Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitali... OMIM:258040
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Cryptorchidism, Abnormal tongue morphology ORPHA:531151
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Cryptorchidism OMIM:616789
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Enuresis, Aplasia/hypoplasia of the uterus, Cryptorchidism, Hydronephr... ORPHA:96121
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g... ORPHA:991
Malakoplakia
Urinary bladder inflammation, Dysuria, Abnormality of the menstrual cycle, Urinary hesitancy, Orc... ORPHA:556
Bloom Syndrome
Hypertrichosis, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in fe... OMIM:210900
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Cryptorchidism, Supernumerary nipple OMIM:618109
Trichodermodysplasia-Dental Alterations Syndrome
Adenoma sebaceum, Sparse lateral eyebrow, Fine hair, Abnormal morphology of female internal genit... ORPHA:3353
Obesity And Hypopigmentation
Red hair, Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi... OMIM:615830
Osteoglosphonic Dysplasia
Cryptorchidism ORPHA:2645
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Neoplasm of the pancreas, Elevated urinary catecholamin... ORPHA:892
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Hypot... ORPHA:2905
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Clef... ORPHA:1300
Toluene Embryopathy
Hydronephrosis, Cryptorchidism ORPHA:1920
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Perineal hypospadias ORPHA:3134
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary amenorrhea, Micr... OMIM:603457
Ruijs-Aalfs Syndrome
Hypogonadism OMIM:616200
Trisomy 8Q
Cryptorchidism, Displacement of the urethral meatus, High palate, Bifid tongue, Hypoplasia of pen... ORPHA:1752
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Unilateral renal hypoplasia, Cryptorchidism ORPHA:2874
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Median cleft palate, Cryptorchidism, Adrenal hypoplasia, Micropenis, Anal atres... OMIM:264480
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Abnormality of the ureter, Renal cyst, Abnormal morphology of female internal gen... ORPHA:1834
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Testicular torsion, Cryptorchidism ORPHA:75496
Acrodysostosis
Hypogonadism, Irregular menstruation, Abnormal female external genitalia morphology, Cryptorchidism ORPHA:950
Adams-Oliver Syndrome 1
Imperforate hymen, Alopecia, Supernumerary nipple OMIM:100300
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Sanjad-Sakati Syndrome
Cryptorchidism, Intestinal obstruction, Congenital hypoparathyroidism, Hypoparathyroidism, Hypopl... ORPHA:2323
Myopathy, Centronuclear, X-Linked
High palate, Cryptorchidism, Pyloric stenosis OMIM:310400
Carpenter Syndrome 1
Precocious puberty, Hydroureter, External genital hypoplasia, Obesity, Cryptorchidism, Hydronephr... OMIM:201000
Mody
Abnormal circulating insulin concentration, Nephropathy, Pancreatic hypoplasia, Insulin-resistant... ORPHA:552
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ambiguous genitalia,... ORPHA:261344
Johnson Neuroectodermal Syndrome
Hypogonadism, Cleft palate ORPHA:2316
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Cryptorchidism, Prolonged G2 phase of cell cycle, Ectopic kidney, Hypergonadotr... OMIM:600901
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Multiple bladder diverticula, Cryptorchidism, Proteinuria, Cleft palate ORPHA:2728
Sotos Syndrome
Sparse eyebrow, High anterior hairline, Tall stature, Cryptorchidism, Increased body weight, Over... OMIM:117550
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Renal insufficiency, Cryptorchidism, Proteinuria, High palate, Cl... ORPHA:1307
3Mc Syndrome 3
Bifid scrotum, Horseshoe kidney, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Cleft palate OMIM:248340
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Intestinal pseudo-obstruction ORPHA:73246
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Nephrolithiasis, Hirsutism, Oligome... OMIM:219090
Alg9-Cdg
Hypertrichosis, Hydronephrosis, Low posterior hairline, Hypoplastic nipples, Hypoplasia of the ov... ORPHA:79328
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Anteriorly placed anus, Cryptor... OMIM:618494
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Proteinuria, Generaliz... ORPHA:79086
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Hypogonadism, Cryptorchidism, Ectopic a... ORPHA:96170
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Proximal renal tubular acidosis OMIM:615824
Alstrom Syndrome
Irregular menstruation, Nephritis, Alopecia, Insulin-resistant diabetes mellitus, Decreased respo... OMIM:203800
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Abnormality of the endocrine system, Cryptorchidism ORPHA:166035
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hypoplasia of penis, Cleft palate ORPHA:1812
Chromosome 14Q11-Q22 Deletion Syndrome
Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorch... OMIM:613457
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Renal hypoplasia, Unilateral renal agenesis, Failure to thrive... OMIM:270400
Ellis Van Creveld Syndrome
Hydroureter, Failure to thrive, Abnormal morphology of female internal genitalia, Abnormal hair m... ORPHA:289
Peutz-Jeghers Syndrome
Uterine neoplasm, Abnormality of the ureter, Ovarian cyst, Precocious puberty with Sertoli cell t... OMIM:175200
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Cryptorchidism, Hypoplasia of the thymus, Polycystic kidney ... OMIM:214110
Warburg Micro Syndrome 2
Micropenis, Small scrotum, Hypoplastic labia majora, Cryptorchidism OMIM:614225
Kleefstra Syndrome
Highly arched eyebrow, Supernumerary nipple, Obesity, Renal insufficiency, Cryptorchidism, Vesico... ORPHA:261494
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Werner Syndrome
Hypogonadism, Diabetes mellitus OMIM:277700
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di... ORPHA:168569
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Anal atresia, Cryptorchidism ORPHA:2063
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Hypospadias, Cryptorchidism ORPHA:251071
Von Hippel-Lindau Syndrome
Pheochromocytoma, Paraganglioma, Multiple renal cysts, Epididymal cyst, Pancreatic cysts, Neoplas... OMIM:193300
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:293978
Arthrogryposis, Distal, Type 1A
Cryptorchidism OMIM:108120
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Cryptorchidism OMIM:614857
Dyskeratosis Congenita
Alopecia, White hair, Abnormal morphology of female internal genitalia, Premature graying of hair... ORPHA:1775
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Absent gallbladder, Low posterior hairline, Micropenis OMIM:617925
Holoprosencephaly-Postaxial Polydactyly Syndrome
Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Anal atresia, Adrenal hypoplasia, Th... ORPHA:2166
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia OMIM:614813
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Anal atresia, Rectovaginal fist... OMIM:617466
Orofacial Cleft 15
Cryptorchidism, Bilateral cleft palate OMIM:616788
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hypospadias, Cryptorchidism OMIM:601499
Rhombencephalosynapsis
Abnormality of the uterus, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, ... ORPHA:59315
19Q13.11 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Bifid scrotum, Supernumerary nipple ORPHA:217346
Lymphatic Filariasis
Urethral obstruction, Abnormal scrotum morphology, Orchitis, Hematuria, Proteinuria, Vaginal hydr... ORPHA:2035
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, High, narrow palate, Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of th... ORPHA:96092
Autosomal Recessive Omodysplasia
Cryptorchidism ORPHA:93329
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Waardenburg Syndrome, Type 1
Premature graying of hair, Thick eyebrow, White forelock, Aplasia of the vagina, White eyebrow, W... OMIM:193500
Fetal Akinesia Deformation Sequence
Cleft palate, Cryptorchidism, Intestinal hypoplasia ORPHA:994
Leprechaunism
Clitoral hypertrophy, Long penis, Central hypothyroidism, Nephrocalcinosis, Failure to thrive, Ov... ORPHA:508
Acrocardiofacial Syndrome
Cryptorchidism, Anal atresia, Hyperthyroidism, Hypoplasia of penis, Hypospadias, Cleft palate ORPHA:2008
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Noonan Syndrome 6
Cryptorchidism OMIM:613224
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Cryptorchidism, Thyroid lymphangiectasia... OMIM:235255
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Hypothyroidism, Micropenis, Ectopic ... OMIM:616541
Koolen-De Vries Syndrome
High, narrow palate, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Hypothyroidism, Urete... ORPHA:96169
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Median cleft palate, Cryptorchidism, Ambiguous genitalia, Adrenal hy... OMIM:612651
Marden-Walker Syndrome
High, narrow palate, Renal hypoplasia, Cryptorchidism, Micropenis, High palate, Hypospadias, Clef... OMIM:248700
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism OMIM:301039
Macs Syndrome
High palate, Cryptorchidism, Hypergonadotropic hypogonadism, Urethral stenosis OMIM:613075
Wolfram Syndrome
Nephropathy, Male hypogonadism, Hypogonadism, Dysuria, Delayed puberty, Diabetes insipidus, Diabe... ORPHA:3463
Congenital Multicore Myopathy With External Ophthalmoplegia
Micropenis, Small scrotum, High palate, Cryptorchidism ORPHA:98905
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Microglossia, Hydroureter, Anteriorly placed anus, Decrease... OMIM:146510
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Cohen Syndrome
Failure to thrive in infancy, Obesity, Long eyelashes, Thick eyebrow, Cryptorchidism, Low anterio... ORPHA:193
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Overgrowth, Hydrocele testis, Enlarged kidney ORPHA:276280
Baraitser-Winter Syndrome 1
Micropenis, Cryptorchidism OMIM:243310
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Narrow palate, Hydronephrosis, Cryptorchidism ORPHA:364028
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Penile Agenesis
Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Cryptorchidism, Hydronephro... ORPHA:49
Chops Syndrome
Coarse hair, Horseshoe kidney, Obesity, Long eyelashes, Vesicoureteral reflux, Cryptorchidism, Th... OMIM:616368
Kapur-Toriello Syndrome
Intestinal malrotation, Cryptorchidism, Hypoplastic labia majora, Micropenis, Cleft palate OMIM:244300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Micropenis, High palate, Cryptorchidism, Supernumerary nipple OMIM:618929
Arthrogryposis, Distal, Type 12
High palate, Hydrocele testis, Cryptorchidism OMIM:620545
Hypomandibular Faciocranial Dysostosis
Abnormal morphology of female internal genitalia ORPHA:1790
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Micropenis OMIM:619951
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Hypospadias, Cryptorchidism ORPHA:494344
Fryns Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Vesicoureteral reflux, Cryptorchidism, Hydr... ORPHA:2059
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism OMIM:608093
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Arthrogryposis, Distal, Type 3
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, High palate, Cleft palate OMIM:114300
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Intestinal ma... ORPHA:99776
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Decreased response to growth hormone stimulation test, Vesicouret... OMIM:603467
Blue Diaper Syndrome
Nephrocalcinosis, Elevated circulating thyroid-stimulating hormone concentration, Decreased circu... ORPHA:94086
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Cryptorchidism, Submucous cleft soft palate, Male pseudohermaphroditism, Shawl... ORPHA:2282
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Cryptorchidism, Cleft palate OMIM:612938
Acromelic Frontonasal Dysplasia
Hypopituitarism, Median cleft palate, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:1827
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Bilateral cryptorchidism, Large for gestational age, Sparse eyelashes, ... ORPHA:544488
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Submucous cleft hard palate, Unilateral ... OMIM:619103
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Micropenis, Cryptorchidism OMIM:619847
Martsolf Syndrome 1
Micropenis, Hypogonadotropic hypogonadism, High palate, Cryptorchidism OMIM:212720
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Obesity, Hydronephrosis OMIM:619269
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Small scrotum, Abnormality of the ureter, Bilateral cleft palate ORPHA:3253
Perlman Syndrome
Large for gestational age, Renal hamartoma, Cryptorchidism, Pancreatic islet-cell hyperplasia OMIM:267000
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Intestinal obstruction, Aganglionic megaco... ORPHA:3440
Pontocerebellar Hypoplasia, Type 7
Micropenis, High palate, Ambiguous genitalia, Cryptorchidism OMIM:614969
Cimdag Syndrome
Hypogonadism, Cholelithiasis OMIM:619273
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Unilateral renal agenesis, Rectovaginal fistula, Anteriorly placed anus OMIM:608980
Kabuki Syndrome
Precocious puberty, Highly arched eyebrow, Failure to thrive, Sparse lateral eyebrow, Crossed fus... ORPHA:2322
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Central hypothyroidism, Bilateral cryptorchidism, Decreased testicular size, Cryptorchidism, Hypo... OMIM:300998
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Volvulus, Horseshoe kidney, Pyelonephritis, Vesicoureteral reflux, C... OMIM:301111
Opitz Gbbb Syndrome
Bifid scrotum, Ankyloglossia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Ectopic anus... ORPHA:2745
Ritscher-Schinzel Syndrome 4
Micropenis, Narrow palate, High palate, Cryptorchidism OMIM:619435
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Hypogonadism, Cryptorchidism, High palate, Absence of labia majora, Hypoplasia of ... ORPHA:2990
Crane-Heise Syndrome
Hypoplasia of penis, Cryptorchidism, Cleft palate ORPHA:1512
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Small for gestational age, Failure to thrive, Fair hair, Septate vagina, Fr... OMIM:243800
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypopa... ORPHA:231222
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Microphthalmia, Syndromic 2
Adrenal insufficiency, Septate vagina, Thick eyebrow, Cryptorchidism, Laterally curved eyebrow, D... OMIM:300166
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Perineal hypospadias OMIM:312830
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Precocious puberty, High, narrow palate, Decreased response to growth hormo... ORPHA:96182
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Pelvic kidney, Cryptorchidism OMIM:613951
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Bifid uvula, Cleft soft palate, Cleft palate ORPHA:2736
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Furro... ORPHA:201
Cushing Disease
Abnormal libido, Secondary amenorrhea, Increased circulating cortisol level, Increased urinary co... ORPHA:96253
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia ORPHA:1848
Angelman Syndrome
Delayed menarche, Obesity, Precocious puberty in females, Fair hair ORPHA:72
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Cryptorchidism ORPHA:3304
X-Linked Mandibulofacial Dysostosis
High palate, Cryptorchidism ORPHA:1131
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Prominent scrotal raphe, Narrow palate, Cl... ORPHA:1555
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Cryptorchidism OMIM:620327
Seckel Syndrome 1
Clitoral hypertrophy, Cryptorchidism, High palate, Hypospadias, Cleft palate OMIM:210600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational... ORPHA:79644
Opitz Gbbb Syndrome
Rectourethral fistula, Vesicoureteral reflux, Cryptorchidism, Anal atresia, Cleft palate, Micrope... OMIM:300000
Fanconi Anemia, Complementation Group C
Horseshoe kidney, Cryptorchidism, Prolonged G2 phase of cell cycle, Ectopic kidney, Hypergonadotr... OMIM:227645
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Volvulus, Cryptorchidism, Hydronephrosis, Aganglionic megacolo... ORPHA:847
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Supernumerary nipple, Obesity, Vesicoureteral reflux, Cryptorchidism, Hydr... OMIM:618653
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Schinzel-Giedion Syndrome
Annular pancreas, Central hypothyroidism, Failure to thrive in infancy, Abnormality of the ureter... ORPHA:798
Flat Face-Microstomia-Ear Anomaly Syndrome
High, narrow palate, Small scrotum, Cryptorchidism ORPHA:1968
Meier-Gorlin Syndrome 4
Breast hypoplasia, Cryptorchidism OMIM:613804
Beckwith-Wiedemann Syndrome
Macroglossia, Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Adrenoc... OMIM:130650
Neurooculorenal Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Central hypothyroidism, Anteriorly placed... OMIM:620305
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis ORPHA:85201
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Furrowed tongue, Cryptorchidism, Micropenis, High palate OMIM:300534
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Shawl scrotum, Micropenis, Hypospadias, Cleft palate OMIM:600460
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
High palate, Cryptorchidism OMIM:619244
Bloom Syndrome
Azoospermia, Sparse eyelashes, Patchy alopecia, Oligozoospermia, Abdominal obesity, Premature ova... ORPHA:125
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Intestinal malrotation, Cryptorchidism, Cleft palate ORPHA:457193
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Congenital hypoparathyroidism, Abnormal circulating follicle-stimulati... ORPHA:93325
Alagille Syndrome
Abnormality of the ureter, Nephrotic syndrome, Delayed puberty, Cryptorchidism ORPHA:52
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism OMIM:610651
Wolf-Hirschhorn Syndrome
Precocious puberty, Malrotation of small bowel, Cryptorchidism, Aplasia of the uterus, Hypospadia... OMIM:194190
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism OMIM:224410
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hypospadias... ORPHA:2658
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Cryptorchidism OMIM:602471
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Cog5-Cdg
Urinary incontinence, Cryptorchidism, Neurogenic bladder, Micropenis, High palate ORPHA:263487
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Stolerman Neurodevelopmental Syndrome
Bifid uvula, Hypoplastic nipples, Cryptorchidism OMIM:618505
Acrofacial Dysostosis, Catania Type
Hypospadias, Cryptorchidism ORPHA:1786
Chromosome 19Q13.11 Deletion Syndrome, Distal
Hypospadias, Cryptorchidism, Bifid scrotum OMIM:613026
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Small scrotum, Hypospadias, Cryptorchidism OMIM:607143
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Failure to thrive, Abnormality of the ureter, Hypospadias, Epispadias ORPHA:3339
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ... ORPHA:64
Ogden Syndrome
High, narrow palate, Cryptorchidism ORPHA:276432
Hatipoglu Immunodeficiency Syndrome
Hypospadias, Cryptorchidism OMIM:620331
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Crypto... ORPHA:2241
Microphthalmia, Syndromic 3
Cryptorchidism, Hypogonadotropic hypogonadism, Esophageal atresia, Anterior pituitary hypoplasia,... OMIM:206900
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Hydronephrosis, Micropenis, Duodenal atresia OMIM:617798
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Renal cyst, Ambiguous genitalia, Mic... OMIM:257300
Fanconi Anemia, Complementation Group D2
Annular pancreas, Horseshoe kidney, Cryptorchidism, Prolonged G2 phase of cell cycle, Tracheoesop... OMIM:227646
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Ureteral duplication, Hydrocele... OMIM:614080
Distal Deletion 12Q
Annular pancreas, Maturity-onset diabetes of the young, Pituitary adenoma, Fine hair, Failure to ... ORPHA:96149
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cryptorchidism, Midgut malrotation, Micropenis, Cleft palate, Pyloric stenosis OMIM:263750
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism ORPHA:96097
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Cryptorchidism, Anal atresia, High pa... ORPHA:93932
Ritscher-Schinzel Syndrome 3
Cryptorchidism OMIM:619135
Cystinosis, Nephropathic
Hematuria, Weight loss, Male infertility, Aminoaciduria, Generalized aminoaciduria, Male hypogona... OMIM:219800
Meier-Gorlin Syndrome 5
Micropenis, Cryptorchidism, Submucous cleft hard palate OMIM:613805
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Bladder diverticulum, Increased circulating androgen concentration, Diabete... ORPHA:2976
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, High palate, Anal atresia, Hypospadias, Decrease... ORPHA:84
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Prote... ORPHA:263455
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Anal atresia, H... OMIM:619148
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, High, narrow palate, Clitoral hypertrophy, Cryptorchidism, Protruding tongue, Hydr... OMIM:214100
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Bifid scrotum, Shawl scrotum, Hypospadias, Epispadias ORPHA:2211
Developmental And Epileptic Encephalopathy 111
Cryptorchidism, Nephrolithiasis OMIM:620504
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Protruding tongue, Cryptorchidism, High palate OMIM:300963
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Supernumerary nipple, Abnormal reproductive system morphology, Low posterior hair... ORPHA:1521
Deeah Syndrome
Narrow palate, Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptor... OMIM:619004
Walker-Warburg Syndrome
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Hypoplasia of penis, Cleft palate ORPHA:899
Baller-Gerold Syndrome
Bifid uvula, Anteriorly placed anus, Perineal fistula, High palate, Anal atresia, Rectovaginal fi... OMIM:218600
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Horseshoe kidney, Vesicoureteral reflux, Aplasia of the uterus, Ureteral dup... OMIM:274000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Narrow palate, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples... OMIM:276820
Gorlin Syndrome
Hypogonadotropic hypogonadism, Ovarian fibroma, Cryptorchidism ORPHA:377
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Hydr... OMIM:135900
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Horseshoe kidney, Bifid ureter, Renal insufficiency,... OMIM:617641
14Q22Q23 Microdeletion Syndrome
Small scrotum, Renal hypoplasia, Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasi... ORPHA:264200
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cryptorchidism, Cleft palate, Supernumerary nipple OMIM:612530
Recombinant 8 Syndrome
Small scrotum, Cryptorchidism, Abnormality of the anus, Hypoplastic male external genitalia, Clef... ORPHA:96167
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle ORPHA:90308
Trisomy 18
Hydronephrosis, Cachexia, Cryptorchidism, Abnormal morphology of female internal genitalia ORPHA:3380
20Q11.2 Microduplication Syndrome
Micropenis, Cryptorchidism, Bifid scrotum ORPHA:363659
Microphthalmia, Lenz Type
Hydronephrosis, Hypospadias, Cryptorchidism, Hydroureter ORPHA:568
Fryns Syndrome
Ectopic pancreatic tissue, Bifid scrotum, Facial hirsutism, Large for gestational age, Cryptorchi... OMIM:229850
Cystic Fibrosis
Decreased body mass index, Absent vas deferens, Failure to thrive, Nephrolithiasis, Male infertility ORPHA:586
Distal Deletion 15Q
Multicystic kidney dysplasia, Cryptorchidism, Decreased serum insulin-like growth factor 1, Micro... ORPHA:1596
Hartsfield Syndrome
Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus, Hypospadias, Cleft palate OMIM:615465
Meier-Gorlin Syndrome 6
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypoplastic labia majora, ... OMIM:616835
Congenital Heart Defects And Skeletal Malformations Syndrome
Intestinal malrotation, Cryptorchidism, Anal atresia, High palate, Hypospadias OMIM:617602
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Cleft palate OMIM:619123
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism, High palate ORPHA:284160
Meier-Gorlin Syndrome 3
Small scrotum, Clitoral hypertrophy, Breast hypoplasia, Hypoplastic labia minora, Cryptorchidism,... OMIM:613803
C Syndrome
Clitoral hypertrophy, Renal cortical cysts, Cryptorchidism, High palate OMIM:211750
Cockayne Syndrome Type 1
Proteinuria, Male hypogonadism, Renal insufficiency, Cryptorchidism ORPHA:90321
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity, Hirsutism, Cryptorchidism, Synophrys OMIM:616078
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency ORPHA:890
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Clitoral hypertrophy, Breast aplasia, Hypoplastic labia minora,... ORPHA:2554
Ellis-Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias OMIM:225500
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteriorly placed anus, Hypospadias, Cryptorchidism, Cleft palate OMIM:217980
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, Hypoparathyroidism, Cl... OMIM:192430
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, High palate, Cryptorchidism, Cleft palate OMIM:614230
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Breast hypoplasia, Cryptorchidism, Shawl scrotum, Cleft palate OMIM:601353
Alg12-Cdg
Intestinal malrotation, Cryptorchidism, Decreased serum insulin-like growth factor 1, Micropenis,... ORPHA:79324
Robinow Syndrome, Autosomal Dominant 2
Micropenis, Cleft soft palate, Cryptorchidism, Cleft palate OMIM:616331
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Hiatus hernia, Shawl scrotum, Micropenis, High palate OMIM:300895
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux,... OMIM:235510
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney, Cryptorchidism OMIM:613001
Mosaic Trisomy 8
Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, High palate, Cl... ORPHA:96061
Van Maldergem Syndrome 2
Renal hypoplasia, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Hypoplastic nipples, Mic... OMIM:615546
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, V... OMIM:617063
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Cryptorchidism, Hyperuricosuria, Uric acid nephrolithiasis, Hi... OMIM:300661
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
White-Kernohan Syndrome
Hydroureter, Horizontal eyebrow, Horseshoe kidney, Obesity, Long eyelashes, Broad medial eyebrow,... OMIM:619426
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Volvulus, Intestinal malrotation, Cryptorchidism, Proteinuria, Hiatus hernia OMIM:616682
Vacterl With Hydrocephalus
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Abnormal fallopian tube morphology... ORPHA:3412
Townes-Brocks Syndrome
Renal hypoplasia, Urethral valve, Abnormal vagina morphology, Abnormality of the uterus, Bifid sc... ORPHA:857
Noonan Syndrome 1
Hypogonadism, Failure to thrive in infancy, Cryptorchidism, Low posterior hairline, Woolly hair, ... OMIM:163950
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Failure to thrive, Male pseudohermaphroditism, A... ORPHA:2556
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Nephrocalcinosis, Stage 5 chronic kidney disease, Cryptorchidism,... ORPHA:2044
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Failure to thrive, Large for gestational age, Long eyelashes, Cryptorchidism, ... OMIM:607721
Wilson Disease
Abnormality of the menstrual cycle, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Protruding tongue, Hydronephrosis, Shawl scrotum, Micropenis, Macroglossia, Hypos... OMIM:301040
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland, Synophrys OMIM:182290
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Horizontal eyebrow, Abnormal female external genitalia morph... ORPHA:1606
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Pyloric stenosis OMIM:614438
Somatomammotropinoma
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:314769
Larsen Syndrome
Cryptorchidism, Cleft palate ORPHA:503
Lateral Meningocele Syndrome
High, narrow palate, High palate, Cryptorchidism ORPHA:2789
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Cleft palate ORPHA:1865
Charge Syndrome
Highly arched eyebrow, Bifid scrotum, Abnormal morphology of female internal genitalia, Horseshoe... ORPHA:138
Treacher-Collins Syndrome
Small scrotum, Cryptorchidism, Glossoptosis, Hypoplasia of the thymus, Abnormality of the adrenal... ORPHA:861
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria OMIM:614052
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Bilateral breast hypoplasia, Primary amenorrhea ORPHA:319675
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Hypothyroidi... ORPHA:453499
Floating-Harbor Syndrome
Varicocele, Nephrocalcinosis, Glandular hypospadias, Long eyelashes, Cryptorchidism, Hirsutism, H... OMIM:136140
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Duodenal atresia, Cryptorchidism, Hydronephrosis, Renal c... ORPHA:464311
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Hamartoma of tongue, Cryptorchidism, Renal cyst, Ambiguous genitalia, Bifid ton... OMIM:616300
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, Central adrenal insuf... ORPHA:488632
Laurin-Sandrow Syndrome
Cryptorchidism ORPHA:2378
3Mc Syndrome 2
Horseshoe kidney, Cryptorchidism, High palate, Hypospadias, Cleft palate OMIM:265050
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Renal hypoplasia, Hypogonadism, Decreased testicular size, Obesity, Vesicoureteral... OMIM:309580
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
9Q33.3Q34.11 Microdeletion Syndrome
Micropenis, Small scrotum, Esophagitis, Cryptorchidism ORPHA:495818
Norrie Disease
Uterine rupture, Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfuncti... ORPHA:649
Glycerol Kinase Deficiency
Adrenal insufficiency, Cryptorchidism, Adrenocortical hypoplasia, Increased urinary glycerol OMIM:307030
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Chordee, Cryptorchidism, Supernumerary nipple OMIM:616728
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the endocrine syst... ORPHA:228123
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Breast hypoplasia, Cryptorchidism, Hydronephrosis, Renal cyst, Anterio... ORPHA:464306
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Long uvula, High palate, Narrow palate, Diabetes mellitus ORPHA:536532
Cornelia De Lange Syndrome 1
High, narrow palate, Renal hypoplasia, Hypoplastic male external genitalia, Reduced renal cortico... OMIM:122470
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Anteriorly placed anus, Hypogonadism, Cryptorchidism, High palate OMIM:268400
Craniofrontonasal Syndrome
Breast hypoplasia, Cryptorchidism, Unilateral breast hypoplasia, Shawl scrotum, Hypospadias, Clef... OMIM:304110
Hamamy Syndrome
Hypoparathyroidism, High palate, Cryptorchidism OMIM:611174
16P13.11 Microdeletion Syndrome
Cryptorchidism, Cleft palate ORPHA:261236
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Obesity, Renal insufficiency, ... OMIM:188400
Dubowitz Syndrome
Anal stenosis, Abnormal female external genitalia morphology, Cryptorchidism, Submucous cleft har... ORPHA:235
Say-Barber-Miller Syndrome
Hypogonadism, High palate, Cryptorchidism ORPHA:3132
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypogonadism, Aganglionic megacolon, Microcolon, Ileus ORPHA:163746
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia, Cryptorchidism, Urethral stricture, Esophageal stricture, Urethral stenosis OMIM:613990
Lymphangioleiomyomatosis
Abnormal urinary color, Abnormal morphology of female internal genitalia, Hematuria, Renal angiom... ORPHA:538
Meckel Syndrome, Type 1
Abnormality of the uterus, Intestinal malrotation, Ambiguous genitalia, female, External genital ... OMIM:249000
Meckel Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, ... ORPHA:564
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Cryptorchidism OMIM:613834
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Hypoplastic nipples, Labial hypoplasia, Micropenis, High palate OMIM:608156
Ulbright-Hodes Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Renal hypoplasia, Enlarged labia minora, Cryptor... ORPHA:3404
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Horseshoe kidney, Penile hypospadias, Cryptorchidism, High palate, Hypospadias, Congenital poster... OMIM:620083
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Anal stenosis, Bifid scrotum, Ren... OMIM:107480
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflux, Crypt... OMIM:618454
1Q21.1 Microdeletion Syndrome
Ankyloglossia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, High palate ORPHA:250989
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Alopecia, Long eyelashes, Hypoplastic labia minora, Curly eyelashes, C... ORPHA:3107
Distal Deletion 3P
High palate, Cryptorchidism, Cleft palate ORPHA:1620
Cerebellofaciodental Syndrome
Cryptorchidism OMIM:616202
Atypical Werner Syndrome
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:79474
Native American Myopathy
Bifid uvula, Cryptorchidism, Submucous cleft soft palate, High palate, Cleft palate ORPHA:168572
Lenz-Majewski Hyperostotic Dwarfism
Microglossia, Anteriorly placed anus, Cryptorchidism, Chordee, Anterior pituitary hypoplasia, Hyp... OMIM:151050
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula OMIM:618748
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Ectopic thyroid, Cryptorchidism, Submucous cleft hard palate, Thyroid agenesis, Hypo... ORPHA:3047
Robinow Syndrome, Autosomal Dominant 3
Anteriorly placed anus, Clitoral hypoplasia, Vesicoureteral reflux, Cryptorchidism, Micropenis, B... OMIM:616894
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Micropenis, High palate, Cryptorchidism OMIM:619005
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hypogonadism, Bilateral cryptorchidism ORPHA:3042
Xeroderma Pigmentosum
Hypogonadism, Decreased testicular size, Cryptorchidism, Aminoaciduria ORPHA:910
Kabuki Syndrome 1
Anal stenosis, Anoperineal fistula, Intestinal malrotation, Congenital hypothyroidism, Crossed fu... OMIM:147920
Trichorhinophalangeal Syndrome, Type Ii
Bilateral cryptorchidism, Hydrometrocolpos, Thick eyebrow, Alopecia of scalp, Vesicoureteral refl... OMIM:150230
Distal Duplication 17Q
High palate, Vesicoureteral reflux, Cryptorchidism, Cleft palate ORPHA:3379
Mowat-Wilson Syndrome
Webbed penis, Urinary incontinence, Multicystic kidney dysplasia, Horizontal eyebrow, Bifid scrot... ORPHA:2152
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Shawl scrotum, High palate, Narrow palate, Pollakisuria OMIM:227330
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Decreased response to growth hormone stimulation test, Breast aplasia,... ORPHA:268261
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Cryptorchidism ORPHA:2673
Beckwith-Wiedemann Syndrome
Nephropathy, Abnormal pancreas morphology, Tall stature, Adrenocortical cytomegaly, Obesity, Vesi... ORPHA:116
Noonan Syndrome With Multiple Lentigines
Decreased fertility, Hypospadias, Cryptorchidism ORPHA:500
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hydronephrosis, Hypospadias, Cleft palate OMIM:300712
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism, Ureteral stenosis ORPHA:2719
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Breast hypoplasia, Cryptorchidism, Hypoplastic labia majora, Shawl scrotum,... OMIM:224690
Chromosome 15Q25 Deletion Syndrome
Dilatation of renal calices, Cryptorchidism, Cleft palate OMIM:614294
Faundes-Banka Syndrome
Premature thelarche, Delayed puberty, Cryptorchidism, Cleft palate OMIM:619376
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Failure to thrive, Obesity, Phimosis, Low anterior hairline, Hypospadias ORPHA:75857
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Labial hypoplasia, Hypospadias, Clitoral hypoplasia, Pyloric st... OMIM:147791
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Urinary incontinence, Multicystic kidney dysplasia, Failure to thrive, Bifid scrotu... ORPHA:261537
Rothmund-Thomson Syndrome Type 1
Hypogonadism, Premature ovarian insufficiency, Hypothyroidism, Cryptorchidism ORPHA:221008
Frontometaphyseal Dysplasia 2
Bifid uvula, Cryptorchidism, Neurogenic bladder, Delayed puberty, High palate, Ulcerative colitis... OMIM:617137
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Anal stenosis, Malrotation of ... OMIM:606170
Hallermann-Streiff Syndrome
High, narrow palate, Hypothyroidism, Cryptorchidism, Glossoptosis ORPHA:2108
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Slender build, Large for gestational age, Overgrowth, Broad eyebrow, Micropenis, ... ORPHA:457359
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Hydronep... ORPHA:2461
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Cryptorchidism OMIM:620024
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Increased circulating prolactin concentration, Decreased response to growth ho... ORPHA:3455
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Chordee, Hypospadias, Cryptorchidism, Supernumerary nipple ORPHA:477993
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Hydronephrosis, Hypoplasia of the thymus, Perianal abscess, High palate, Cleft pa... OMIM:612541
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Cryptorchidism ORPHA:1101
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hydronephrosis, Micropenis, Hypospadias, Cleft palate ORPHA:163979
Congenital Myopathy 13
High palate, Cryptorchidism, Cleft palate OMIM:255995
Cockayne Syndrome A
Irregular menstruation, Hypogonadism, Renal insufficiency, Cryptorchidism, Thymic hormone decreas... OMIM:216400
Noonan Syndrome 10
High palate, Cryptorchidism OMIM:616564
Diets-Jongmans Syndrome
Hypospadias, Cryptorchidism, Duodenal atresia OMIM:618846
Craniolenticulosutural Dysplasia
Bifid uvula, High palate, Cryptorchidism, Cleft palate OMIM:607812
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Uterus didelphys, Cryptorchidism, Hydronephrosis, Renal cyst, Ectopic anus, Amb... ORPHA:93271
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Volvulus, Abnormality of the uterus, Intestinal malrotation, Renal ... ORPHA:199
Coffin-Siris Syndrome
Horseshoe kidney, Hypospadias, Cryptorchidism, Papillary thyroid carcinoma ORPHA:1465
Barber-Say Syndrome
Absent nipple, Velopharyngeal insufficiency, Cryptorchidism, Hypoplastic nipples, Hypoplastic lab... OMIM:209885
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgenesis, Bifid uterus, Hypospadias OMIM:236680
Wiedemann-Rautenstrauch Syndrome
Sparse eyebrow, Long penis, Alopecia, Failure to thrive, Alopecia of scalp, Cryptorchidism, Spars... OMIM:264090
Codas Syndrome
Anal atresia, Rectovaginal fistula, Cryptorchidism OMIM:600373
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Urinary incontinence, Multicystic kidney dysplasia, Highly arched eyebrow, Duplicat... ORPHA:261552
Ring Chromosome 7 Syndrome
Bifid uvula, Hypogonadism, Median cleft palate, Hydrocele testis, Hypospadias, Cleft palate ORPHA:1449
Monosomy 9P
Ureteropelvic junction obstruction, Cryptorchidism, Ambiguous genitalia, High palate, Hypospadias... ORPHA:261112
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cryptorchidism, High palate, Polycystic kidney dysplasia, Cleft... ORPHA:3103
Specc1L-Related Hypertelorism Syndrome
Ectopic kidney, Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum ORPHA:1519
Poland Syndrome
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Cryptorchidism, Hypospadias, Diabetes mellitus ORPHA:2911
Noonan Syndrome
Hypogonadotropic hypogonadism, High palate, Delayed menarche, Cryptorchidism ORPHA:648
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Overweight, Diabetes mellitus, Obesity ORPHA:69663
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Macroglossia, Multicystic kidney dysplasia, Hydroureter, Supernumerary nippl... ORPHA:373
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Abnormal circulating calcium-phosphate regulating hormone concentration, Hydroureter... ORPHA:2636
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infertility ORPHA:3310
Carpenter Syndrome 2
Highly arched eyebrow, Sparse eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Obesity, C... OMIM:614976
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Horseshoe kidney, Decreased testicular size, Cryptorchidism, Phimosis, Anal muc... OMIM:305000
Toriello-Carey Syndrome
Anteriorly placed anus, Cryptorchidism, Aganglionic megacolon, High palate, Cleft palate ORPHA:3338
Microphthalmia, Syndromic 6
Small scrotum, Abnormality of the hypothalamus-pituitary axis, Renal hypoplasia, Bifid uvula, Mic... OMIM:607932
Pallister-Killian Syndrome
Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Supernumerary nipple, Intestin... OMIM:601803
Chromosome 13Q14 Deletion Syndrome
Micropenis, High palate, Cryptorchidism, Supernumerary nipple OMIM:613884
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia, Hypothyroidism, Cryptorchidism OMIM:620005
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Ureterocele, Cryptorchidism, Hypospadias, Cleft palate OMIM:616734
Double Outlet Left Ventricle
Cryptorchidism ORPHA:3427
22Q11.2 Deletion Syndrome
Cholelithiasis, Renal hypoplasia, Abnormality of the uterus, Intestinal malrotation, Vesicoureter... ORPHA:567
Mosaic Trisomy 20
Horseshoe kidney, Cryptorchidism, Cleft palate ORPHA:1724
Hajdu-Cheney Syndrome
Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Polycystic kidney d... OMIM:102500
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Galactosuria, Organic aciduria, Cryptorchidism, Cleft palate ORPHA:85276
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Cryptorchidism, Submucous cleft soft palate, Pineal cyst, Delayed puberty OMIM:300967
Noonan Syndrome 3
High palate, Cryptorchidism OMIM:609942
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Breast hypoplasia, Ureteropelvic junction ... ORPHA:506358
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Hypospadias, Delayed puberty, Cryptorchidism, Decreased testicular size ORPHA:459070
Schneckenbecken Dysplasia
Cryptorchidism, Cleft palate ORPHA:3144
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Vesicoureteral reflux, Cryptor... ORPHA:438213
Mend Syndrome
Crossed fused renal ectopia, Cryptorchidism, High palate OMIM:300960
Loeys-Dietz Syndrome
Tall stature, Uterine rupture ORPHA:60030
Acromelic Frontonasal Dysostosis
Hypopituitarism, Submucous cleft soft palate, Cryptorchidism, Cleft palate OMIM:603671
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Charge Syndrome
Cryptorchidism, Hypoparathyroidism, Anal atresia, Duodenal atresia, Parathyroid hypoplasia, Aplas... OMIM:214800
Neurofibromatosis Type 1
Precocious puberty, Pheochromocytoma, Cryptorchidism, Gastrointestinal stroma tumor, Delayed pube... ORPHA:636
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Female pseudohermaphroditism, Cryptorchidism, Abn... ORPHA:1308
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Neurofibromatosis-Noonan Syndrome
Cryptorchidism OMIM:601321
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Femoral-Facial Syndrome
Cryptorchidism, Hypoplastic labia majora, Maternal diabetes, Micropenis, Polycystic kidney dyspla... OMIM:134780
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Trichiasis, Vaginal strictu... ORPHA:95455
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Alopecia of scalp, Cryptorchidism, Uterine prolapse, Cervical insuffi... OMIM:130050
Orofaciodigital Syndrome Xiv
Anteriorly placed anus, Hamartoma of tongue, Unilateral renal hypoplasia, Cryptorchidism, Aplasia... OMIM:615948
African Trypanosomiasis
Abnormality of the menstrual cycle, Abnormality of circulating cortisol level, Abnormality of ren... ORPHA:3385
Tibial Hemimelia
Ambiguous genitalia, Hypospadias, Cryptorchidism, Cleft palate ORPHA:93322
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Hydronephrosis, Biliary hyperplasia, Micro... ORPHA:83617
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Cryptorchidism, Hydronephrosis, Short hard palate, Hypoplastic labia majora, Micro... OMIM:180700
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hypoplasia of the thymus ORPHA:906
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism OMIM:620025
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Renal hypoplasia, Xerostomia, Abnormal salivary gland morphology, Vesicoureteral ref... ORPHA:2363
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Omodysplasia 1
Cryptorchidism OMIM:258315
Primrose Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Delayed puberty, High palate, Diabetes ... OMIM:259050
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Bifid scrotum, Supernumerary nipple, Cryptorchidism, Submuc... OMIM:235730
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Horseshoe kidney, Enlarged labia minora, Cryptorchidism, Polycy... OMIM:268300
Cystic Fibrosis
Hypercalciuria, Failure to thrive, Male infertility OMIM:219700
Hellp Syndrome
Hemoglobinuria, Proteinuria, Acute kidney injury, Increased body weight ORPHA:244242
Microphthalmia, Syndromic 1
High, narrow palate, Renal hypoplasia, Hydroureter, Cryptorchidism, Aganglionic megacolon, Anal a... OMIM:309800

Histopathology

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

There is no histopathology data for Gnrhr

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 Gnrhr.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gnrhrtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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