Gene: Dhh MGI:94891

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

desert hedgehog

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dhh mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dhh (4 diseases)
Human diseases predicted to be associated with Dhh (1170 diseases)

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

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

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

Disease	Matching phenotypes	Source
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest	OMIM:619145
Partial Chromosome Y Deletion	Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert...	ORPHA:1646
Isochromosomy Yp	Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in...	ORPHA:98797
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia	OMIM:619108
Spermatogenic Failure 25	Decreased testicular size, Azoospermia, Cryptozoospermia	OMIM:617960
Isochromosomy Yq	Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso...	ORPHA:98798
Hypogonadotropic Hypogonadism 24 Without Anosmia	Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism	OMIM:229070
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli...	ORPHA:52901
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality...	ORPHA:983
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a...	ORPHA:399805
Leydig Cell Hypoplasia	Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,...	ORPHA:755
Testicular Torsion	Torsion of appendix of testis, Testicular torsion	OMIM:187400
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal...	ORPHA:752
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Spermatogenic Failure 32	Infertility, Azoospermia	OMIM:618115
Spermatogenic Failure 23	Infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 22	Infertility, Azoospermia	OMIM:617706
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre...	OMIM:273250
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Cryptorchidism, Micropenis, Congenital adrenal hypoplasia	OMIM:202150
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Hypogonadotropic Hypogonadism 23 Without Anosmia	Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis...	OMIM:228300
Spermatogenic Failure 28	Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ...	OMIM:618086
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Spermatogenic Failure 5	Male infertility, Functional abnormality of male internal genitalia	OMIM:243060
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries	ORPHA:242
Spermatogenic Failure 2	Azoospermia, Oligospermia	OMIM:108420
Persistent Mullerian Duct Syndrome, Types I And Ii	Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali...	OMIM:261550
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p...	OMIM:264300
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
7P22.1 Microduplication Syndrome	Cryptorchidism	ORPHA:314034
Spermatogenic Failure 46	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel...	OMIM:619095
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Spermatogenic Failure 43	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra...	OMIM:618751
Spermatogenic Failure 49	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ...	OMIM:619094
X-Linked Intellectual Disability, Van Esch Type	Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H...	ORPHA:163976
Young Syndrome	Decreased fertility, Obstructive azoospermia	ORPHA:3471
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile...	OMIM:301059
46,Xy Sex Reversal 1	Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone...	OMIM:400044
Spermatogenic Failure 40	Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,...	OMIM:618664
Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi...	ORPHA:754
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Spermatogenic Failure 1	Male infertility, Oligospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 47	Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility	OMIM:619102
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia	OMIM:277180
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure, Y-Linked, 2	Azoospermia	OMIM:415000
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased...	ORPHA:399808
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp...	OMIM:612885
Caudal Appendage-Deafness Syndrome	Cryptorchidism	ORPHA:1123
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat...	OMIM:300869
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism	OMIM:614279
Androgen Insensitivity, Partial	Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia...	OMIM:312300
Premature Ovarian Failure 17	Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ...	OMIM:619146
X-Linked Intellectual Disability, Cilliers Type	Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy...	ORPHA:163971
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Spermatogenic Failure 54	Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a...	OMIM:619379
Bifid Nose, Autosomal Dominant	Cryptorchidism	OMIM:109740
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Infertility, Increased circulating gonadotropin level, Male hypogonadism, Abnormal vagina morphol...	ORPHA:168563
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Mental Retardation, Autosomal Dominant 52	Cryptorchidism	OMIM:617796
Familial Male-Limited Precocious Puberty	Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty	ORPHA:3000
Spermatogenic Failure 39	Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla...	OMIM:618643
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita...	ORPHA:90791
Pituicytoma	Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Pituitary hypothyroidism, Hypopituit...	ORPHA:251623
Spermatogenic Failure 7	Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia	OMIM:612997
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ...	OMIM:614841
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop...	OMIM:614840
49,Xxxyy Syndrome	Ambiguous genitalia, Increased circulating gonadotropin level, Male hypogonadism, Abnormality of ...	ORPHA:261534
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism	OMIM:274205
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,...	ORPHA:99429
Spermatogenic Failure 42	Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil...	OMIM:618745
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,...	ORPHA:529970
Testicular Anomalies With Or Without Congenital Heart Disease	Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M...	OMIM:615542
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility	OMIM:618670
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre...	OMIM:618841
Mental Retardation, X-Linked 14	Macroorchidism	OMIM:300062
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De...	ORPHA:90796
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve...	ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra...	ORPHA:90793
Frasier Syndrome	Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot...	ORPHA:347
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec...	OMIM:612964
Mental Retardation, X-Linked 2	High palate, Macroorchidism	OMIM:300428
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu...	OMIM:146110
46,Xy Partial Gonadal Dysgenesis	Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi...	ORPHA:251510
Spermatogenic Failure 35	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618153
Spermatogenic Failure 18	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617576
Spermatogenic Failure 20	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617593
Spermatogenic Failure 19	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617592
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Androgen Insensitivity Syndrome	Blind vagina, Elevated circulating luteinizing hormone level, Labial hypoplasia, Primary amenorrh...	OMIM:300068
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Ring Chromosome Y Syndrome	Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U...	ORPHA:261529
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Spermatogenic Failure 11	Infertility, Abnormal sperm morphology	OMIM:615081
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism	Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi...	OMIM:619326
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog...	OMIM:202110
49,Xyyyy Syndrome	Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test...	ORPHA:99330
46,Xy Sex Reversal 3	Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ...	OMIM:612965
Premature Ovarian Failure 18	Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h...	OMIM:619203
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis	OMIM:614897
Spermatogenic Failure 51	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro...	OMIM:619177
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a...	OMIM:612310
Obesity Due To Congenital Leptin Deficiency	Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se...	ORPHA:66628
Hypogonadism, Male	Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis	OMIM:241100
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Infertility, Abnormal sperm morphology	OMIM:608653
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se...	ORPHA:179494
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De...	ORPHA:289548
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism, Cleft palate	ORPHA:1074
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Hypogonadism, Micropenis, Hypoplasia of penis	ORPHA:85274
Macrocephaly, Acquired, With Impaired Intellectual Development	Unilateral cryptorchidism	OMIM:618286
Frasier Syndrome	Primary amenorrhea, Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism	OMIM:136680
Denys-Drash Syndrome	Gonadal dysgenesis, Male pseudohermaphroditism	ORPHA:220
Methemoglobinemia And Ambiguous Genitalia	Ambiguous genitalia, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, Micropenis	OMIM:250790
Precocious Puberty, Central, 1	Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut...	OMIM:176400
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia	ORPHA:48
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration	OMIM:201100
Normosmic Congenital Hypogonadotropic Hypogonadism	Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A...	ORPHA:432
N Syndrome	Cryptorchidism, Hypospadias	ORPHA:2608
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Spermatogenic Failure 38	Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno...	OMIM:618433
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Endocardial Fibroelastosis	Cryptorchidism	OMIM:226000
Testicular Agenesis	Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes...	ORPHA:325124
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog...	OMIM:614837
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism, Cerebral cortical atrophy	ORPHA:1568
Functioning Gonadotropic Adenoma	Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit...	ORPHA:91348
Hypogonadism-Cataract Syndrome	Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Male hypogona...	OMIM:240950
Premature Ovarian Failure 1	Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:311360
Prolactin Deficiency With Obesity And Enlarged Testes	Reduced circulating prolactin concentration, Macroorchidism	OMIM:264120
Currarino Syndrome	Bifid scrotum, Male pseudohermaphroditism, Hypoplasia of penis, Hypospadias, Abnormal intestine m...	ORPHA:1552
Autosomal Recessive Spastic Paraplegia Type 26	Cerebral cortical atrophy, Decreased serum testosterone concentration, Hyperintensity of cerebral...	ORPHA:101006
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas...	ORPHA:453533
Spermatogenic Failure 4	Azoospermia, Recurrent spontaneous abortion	OMIM:270960
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis	Cryptorchidism, Microphallus, Micropenis	OMIM:218450
Gemignani Syndrome	Delayed puberty, Hypoplasia of penis, Abnormal testis morphology	ORPHA:2074
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an...	ORPHA:90790
Periventricular Nodular Heterotopia 7	Cryptorchidism, Hypoplasia of the corpus callosum, Cortical dysplasia, Cleft palate	OMIM:617201
Leydig Cell Hypoplasia, Type I	Hypergonadotropic hypogonadism, Increased circulating gonadotropin level	OMIM:238320
Genitopalatocardiac Syndrome	Cryptorchidism, Gonadal dysgenesis, male, Male pseudohermaphroditism, Cleft palate, Hypospadias, ...	ORPHA:2075
Intellectual Developmental Disorder, X-Linked 106	Cryptorchidism, Decreased testicular size, Microcephaly, Hypospadias	OMIM:300997
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc...	ORPHA:3044
46,Xx Sex Reversal 1	Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ...	OMIM:400045
Premature Ovarian Failure 16	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova...	OMIM:618723
Premature Ovarian Failure 9	Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea	OMIM:615724
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
X-Linked Intellectual Disability, Siderius Type	Cryptorchidism, Decreased testicular size	ORPHA:85287
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s...	ORPHA:753
Mccune-Albright Syndrome	Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin...	ORPHA:562
Pseudovaginal Perineoscrotal Hypospadias	Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis, Abnor...	OMIM:264600
Polydactyly-Myopia Syndrome	Cryptorchidism	ORPHA:2917
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Bowen-Conradi Syndrome	Cryptorchidism, Microcephaly	ORPHA:1270
47,Xyy Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se...	ORPHA:8
Hao-Fountain Syndrome	Premature adrenarche, Cryptorchidism, Micropenis	OMIM:616863
Hypergonadotropic Hypogonadism-Cataract Syndrome	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se...	ORPHA:2410
Ovarian Dysgenesis 8	Hypoplastic labia majora, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618187
Partington Syndrome	Macroorchidism	ORPHA:94083
Intellectual Developmental Disorder, X-Linked 103	Cryptorchidism, Polymicrogyria, Micropenis	OMIM:300982
Young Syndrome	Azoospermia	OMIM:279000
Retinitis Pigmentosa 59	Cryptorchidism, Micropenis	OMIM:613861
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea...	ORPHA:2232
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Mental Retardation, Autosomal Dominant 51	Cryptorchidism	OMIM:617788
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Small pituitary gland, Primary amenorrhea, Cleft palate, Decreased testicular siz...	OMIM:614880
Kennedy Disease	Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus	ORPHA:481
Xq27.3Q28 Duplication Syndrome	Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency	ORPHA:261483
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis	OMIM:616030
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ...	OMIM:201810
Polyembryoma	Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero...	ORPHA:180229
Spermatogenic Failure 21	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617644
Spermatogenic Failure 16	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type	Male pseudohermaphroditism	OMIM:600122
Aarskog-Scott Syndrome	Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu...	OMIM:305400
Non-Functioning Pituitary Adenoma	Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ...	ORPHA:91349
17Q11.2 Microduplication Syndrome	Microcephaly, Macroorchidism	ORPHA:139474
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia	OMIM:618300
Oliver-Mcfarlane Syndrome	Cryptorchidism, Delayed puberty, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased re...	OMIM:275400
Nivelon-Nivelon-Mabille Syndrome	Microcephaly, Male pseudohermaphroditism	OMIM:600092
Bone Marrow Failure Syndrome 5	Hypogonadism, Microcephaly, Testicular atrophy	OMIM:618165
Ichthyosis, X-Linked	Cryptorchidism	OMIM:308100
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Spermatogenic Failure 24	Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor...	OMIM:617959
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis	ORPHA:3055
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g...	ORPHA:85327
Image Syndrome	Cryptorchidism, Hypogonadism, Adrenal hypoplasia, Hypospadias	ORPHA:85173
Gordon Syndrome	Cryptorchidism, High palate, Cleft palate	ORPHA:376
46,Xx Sex Reversal 2	Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus...	OMIM:278850
Ane Syndrome	Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ...	ORPHA:157954
Microcephaly 16, Primary, Autosomal Recessive	Cryptorchidism, Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616681
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Gonadoblastoma	Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ...	ORPHA:206484
Fetal Minoxidil Syndrome	Cryptorchidism	ORPHA:1918
Premature Ovarian Failure 8	Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim...	OMIM:615723
Chromosome 18P Deletion Syndrome	Cryptorchidism, Decreased testicular size, High palate, Gonadal dysgenesis, Micropenis	OMIM:146390
3Q13 Microdeletion Syndrome	Cryptorchidism, Agenesis of corpus callosum, Hypoplasia of penis	ORPHA:1621
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia...	OMIM:610628
Endocardial Fibroelastosis	Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis	ORPHA:2022
Denys-Drash Syndrome	Ambiguous genitalia, male, Gonadal tissue inappropriate for external genitalia or chromosomal sex...	OMIM:194080
46,Xx Testicular Disorder Of Sex Development	Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries	ORPHA:393
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia	OMIM:615703
Mental Retardation, Autosomal Dominant 47	Cryptorchidism, Cerebral atrophy, Microcephaly	OMIM:617635
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia	OMIM:300985
Tetralogy Of Fallot	Cryptorchidism	ORPHA:3303
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Perrault Syndrome 1	High palate, Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233400
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate	OMIM:612370
Bardet-Biedl Syndrome 4	Cryptorchidism, Hypogonadism, External genital hypoplasia	OMIM:615982
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Hi...	OMIM:308700
Mmep Syndrome	Cryptorchidism, Microcephaly	ORPHA:3434
45,X/46,Xy Mixed Gonadal Dysgenesis	Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, High palate, M...	ORPHA:1772
Premature Ovarian Failure 14	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:618014
Woodhouse-Sakati Syndrome	Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the...	ORPHA:3464
Hypersecretion Of Adrenal Androgens, Familial	Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea	OMIM:145295
Chondrodysplasia-Disorder Of Sex Development Syndrome	Microcephaly, Cerebral hypoplasia, Male pseudohermaphroditism	ORPHA:1422
Intellectual Developmental Disorder, X-Linked, Syndromic 13	High palate, Microcephaly, Macroorchidism	OMIM:300055
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Cryptorchidism, Small pituitary gland, Primary amenorrhea, Hypogonadotropic hypogonadism, High pa...	OMIM:612702
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Adrenocortical hypoplasia	ORPHA:408
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism	ORPHA:2489
8p23.1 deletion syndrome	Cryptorchidism	DECIPHER:39
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu...	OMIM:308750
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Cryptorchidism, Submucous cleft soft palate, Microcephaly, Male pseudohermaphroditism, Hypospadia...	ORPHA:2282
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Cryptorchidism, Ambiguous genitalia, Macroglossia, Aganglionic megacolon, Cerebral cortical atrop...	ORPHA:847
Central Precocious Puberty	Hypothalamic hamartoma, Increased circulating gonadotropin level, Premature thelarche, Isosexual ...	ORPHA:759
46,Xx Gonadal Dysgenesis	Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ...	ORPHA:243
Mehmo Syndrome	Cryptorchidism, External genital hypoplasia, Hypoplasia of penis, Microcephaly, Diabetes mellitus...	ORPHA:85282
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Adenohypophysitis	Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci...	ORPHA:95512
Post-Traumatic Pituitary Deficiency	Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr...	ORPHA:95619
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Cryptorchidism	ORPHA:1174
Symptomatic Form Of Hemochromatosis Type 1	Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru...	ORPHA:465508
Panhypophysitis	Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci...	ORPHA:95513
Gabriele-De Vries Syndrome	Cryptorchidism, Abnormal cerebral white matter morphology	OMIM:617557
N Syndrome	Cryptorchidism, Hypospadias	OMIM:310465
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f...	OMIM:241080
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Hypogonadism, External genital hypoplasia	ORPHA:363741
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Adrenal Hypoplasia, Congenital	Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev...	OMIM:300200
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Microcephaly, Hypospadias	OMIM:101805
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism	OMIM:250951
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Dysmyelination With Jaundice	Cryptorchidism, Hypoplasia of penis	OMIM:224250
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea	OMIM:602390
Silver-Russell Syndrome 3	Cryptorchidism, Ambiguous genitalia, Hypospadias	OMIM:616489
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ...	ORPHA:95699
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p...	ORPHA:90795
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism	ORPHA:3459
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Macroorchidism	OMIM:300602
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Microcephaly, Cerebral cortical atrophy	OMIM:618298
Intellectual Developmental Disorder, X-Linked 93	Cryptorchidism	OMIM:300659
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Cryptorchidism, Adrenal hypoplasia, Hypospadias, Micropenis, Decreased response to growth hormone...	OMIM:614732
Perrault Syndrome 4	Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno...	OMIM:615300
Branchial Arch Syndrome, X-Linked	Cryptorchidism, High palate, High, narrow palate, Microcephaly	OMIM:301950
Isolated Hemihyperplasia	Cryptorchidism	ORPHA:2128
Aromatase Deficiency	Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Aromatase Deficiency	Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d...	ORPHA:91
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Alazami-Yuan Syndrome	Cryptorchidism, High palate, Microcephaly	OMIM:617126
Spermatogenic Failure 15	Non-obstructive azoospermia	OMIM:616950
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Cryptorchidism, Anal atresia, Hypoplasia of penis	ORPHA:1381
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, High palate	OMIM:618393
Fragile X Syndrome	Cerebral cortical atrophy, Macroorchidism	ORPHA:908
46,Xx Ovotesticular Disorder Of Sex Development	Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi...	ORPHA:2138
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hypospadias	ORPHA:250994
Atkin-Flaitz Syndrome	Exaggerated median tongue furrow, Macroorchidism	OMIM:300431
Lujan-Fryns Syndrome	High palate, Macroorchidism, Aplasia/Hypoplasia of the corpus callosum	ORPHA:776
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hypogonadism	OMIM:601794
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Cryptorchidism, Frontal cortical atrophy, Parietal cortical atrophy, Microcephaly, Agenesis of co...	OMIM:618766
Chromosome 1P35 Deletion Syndrome	Cryptorchidism, High palate, Microcephaly	OMIM:617930
Diethylstilbestrol Syndrome	Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ...	ORPHA:1916
Craniosynostosis With Fibular Aplasia	Cryptorchidism	OMIM:218550
Myotonic Dystrophy 2	Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Oligosp...	OMIM:602668
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Hypoplasia of the corpus callosum, Dilation of lateral ventricles	OMIM:616816
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a...	ORPHA:3085
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis	ORPHA:2183
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Microcephaly, Insulin-resista...	ORPHA:2959
Non-Distal Trisomy 10Q	Cryptorchidism, High palate, Microcephaly	ORPHA:1695
46,Xy Sex Reversal 5	Sex reversal, Elevated circulating follicle stimulating hormone level	OMIM:613080
Sternum, Premature Obliteration Of Sutures Of	Cryptorchidism	OMIM:184800
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Cleft palate, Hypogonadotropic hypogonadism, Micropenis	OMIM:244200
Myopathy, Congenital Proximal, With Minicore Lesions	Cryptorchidism, Hypoplastic male external genitalia	OMIM:618823
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Primary amenorrh...	ORPHA:95496
Isolated Splenogonadal Fusion	Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism...	ORPHA:457083
Omodysplasia 2	Cryptorchidism, Micropenis, Hypospadias	OMIM:164745
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level	OMIM:618901
Ovarian Fibrothecoma	Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab...	ORPHA:314478
Chromosome 15Q26-Qter Deletion Syndrome	Cryptorchidism, Microcephaly, Micropenis, Hypospadias	OMIM:612626
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Cryptorchidism, Cerebral atrophy	ORPHA:2958
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	High palate, Hypogonadism, Decreased fertility, Abnormal testis morphology	ORPHA:2233
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg...	ORPHA:572333
Wagr Syndrome	Cryptorchidism, Microcephaly, Displacement of the urethral meatus, Ambiguous genitalia	ORPHA:893
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cerebral calcification	OMIM:613987
Recessive X-Linked Ichthyosis	Cryptorchidism, Hypohidrosis	ORPHA:461
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance	Cryptorchidism, Microcephaly, External genital hypoplasia	OMIM:612947
O'Donnell-Luria-Rodan Syndrome	Abnormal corpus callosum morphology, Cryptorchidism, Abnormal cerebral white matter morphology	OMIM:618512
Widow'S Peak Syndrome	Cryptorchidism, Shawl scrotum	OMIM:314570
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Secondary microcephaly	OMIM:613730
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Cleft palate, Clitoral hypertrophy, Spontaneous...	ORPHA:96181
Leukodystrophy, Hypomyelinating, 21	Hypogonadotropic hypogonadism, Cryptorchidism, Microcephaly, Corpus callosum atrophy	OMIM:619310
Alopecia-Mental Retardation Syndrome 4	Hypoplasia of the corpus callosum, Micropenis, Bilateral cryptorchidism, Hypospadias, Microcephaly	OMIM:618840
Spinal Muscular Atrophy, X-Linked 2	Cryptorchidism, Micropenis, Hypospadias	OMIM:301830
Stt3A-Cdg	Cryptorchidism, Microcephaly, Scrotal hypoplasia, Micropenis	ORPHA:370921
Autosomal Recessive Amelia	Cryptorchidism, Scrotal hypoplasia, Hypoplasia of penis	ORPHA:1027
Meckel Syndrome	Urethral atresia, Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplasia of the corpus callosum,...	ORPHA:564
Xp22.13P22.2 Duplication Syndrome	High palate, Microcephaly, Macroorchidism, Polycystic ovaries	ORPHA:284180
Campomelic Dysplasia	Ambiguous genitalia, Male pseudohermaphroditism, Cleft palate	ORPHA:140
Meier-Gorlin Syndrome 8	Microcephaly, Bilateral cryptorchidism	OMIM:617564
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,...	OMIM:202010
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Delayed puberty, Hypoplasia of the prostate, Microcephaly, Micropenis	OMIM:301900
Microphthalmia, Isolated 4	Absent testis	OMIM:613094
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Cryptorchidism, Ambiguous genitalia, male, Testicular dy...	OMIM:608800
Generalized Glucocorticoid Resistance Syndrome	Ambiguous genitalia, Infertility, Increased urinary cortisol level, Increased circulating cortiso...	ORPHA:786
Fetal Akinesia Deformation Sequence 2	Cryptorchidism, High palate, Cleft palate	OMIM:618388
Fanconi Anemia, Complementation Group O	Cryptorchidism, Anal atresia, Rectal atresia, External genital hypoplasia	OMIM:613390
Prieto X-Linked Mental Retardation Syndrome	Cryptorchidism, Cerebral atrophy	OMIM:309610
Microphthalmia, Syndromic 12	Cryptorchidism, Bicornuate uterus	OMIM:615524
Non-Syndromic Posterior Hypospadias	Androgen insufficiency, Cryptorchidism, Bifid scrotum, Esophageal atresia, Ventral shortening of ...	ORPHA:95706
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Glandular hypospadias, Cryptorchidism, Penile hypospadias, Blind vagina, Bifid scrotum, Penoscrot...	ORPHA:456328
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Abnormal cerebral white matter morphology, Simplified gyral pattern, Hypospadias,...	OMIM:618815
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Cerebral hypoplasia	OMIM:210700
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Intestinal malrotation	OMIM:601163
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Cryptorchidism, Congenital hypothyroidism, Precocious puberty	OMIM:614736
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Abnormal stomach morphology, Hypohidrosis, Testicular seminoma, Hypogonadism, Lis...	ORPHA:281090
Familial Glucocorticoid Deficiency	Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res...	ORPHA:361
Temple Syndrome	Cryptorchidism, Type II diabetes mellitus, Bifid uvula, Precocious puberty, Decreased response to...	ORPHA:254516
Tetragametic Chimerism	Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro...	ORPHA:199310
Intellectual Disability, Wolff Type	Cryptorchidism, Abnormal intestine morphology, Hypospadias	ORPHA:3080
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism	ORPHA:261102
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Cryptorchidism, Cerebral atrophy, Premature pubarche	ORPHA:457205
Mosaic Trisomy 14	Cryptorchidism, Hypospadias, Ectopic anus, Cleft palate, High palate, Hypoplasia of penis	ORPHA:1703
Stt3B-Cdg	Cryptorchidism, Microcephaly, Scrotal hypoplasia, Micropenis	ORPHA:370924
Crandall Syndrome	Hypogonadism, Hypoplasia of penis, Abnormal testis morphology	ORPHA:202
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Microcephaly, Hypospadias	OMIM:616910
Filippi Syndrome	Cryptorchidism, Microcephaly, Ambiguous genitalia	OMIM:272440
Imagawa-Matsumoto Syndrome	Cryptorchidism, Polymicrogyria, Anteriorly placed anus, Agenesis of corpus callosum	OMIM:618786
Proximal Xq28 Duplication Syndrome	Cryptorchidism, Hypospadias	ORPHA:1762
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Decreased testicular size, High palate, Shawl scrotum, High, narrow palate, Micro...	OMIM:615433
Microcephaly 27, Primary, Autosomal Dominant	Cryptorchidism, Simplified gyral pattern, Micropenis, Primary microcephaly	OMIM:619180
Short Stature-Wormian Bones-Dextrocardia Syndrome	Cryptorchidism, Midshaft hypospadias, Anal atresia, High palate, Anterior hypopituitarism	ORPHA:2863
Trisomy 4P	Cryptorchidism, Microcephaly, Hypospadias	ORPHA:1738
Culler-Jones Syndrome	Cryptorchidism, Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Clef...	OMIM:615849
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova...	OMIM:194072
Hyperprolactinemia	Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea	OMIM:615555
Microphthalmia, Syndromic 8	Cryptorchidism, Microcephaly, Cleft palate	OMIM:601349
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Cryptorchidism	OMIM:618484
Maternal Uniparental Disomy Of Chromosome X	Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for...	ORPHA:261519
Autosomal Dominant Omodysplasia	Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Hypoplasia of penis	ORPHA:93328
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda...	ORPHA:785
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Cleft palate, Hypogonadotropic hypogonadism, Micropenis, Agen...	OMIM:147950
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease...	ORPHA:280679
Lig4 Syndrome	Cryptorchidism, Amenorrhea, Hypothyroidism, Microcephaly, Micropenis	OMIM:606593
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Microcephaly, Ambiguous genitalia, Hypoplasia of penis	ORPHA:2772
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Cryptorchidism	ORPHA:67044
Laurence-Moon Syndrome	Cryptorchidism, Displacement of the urethral meatus, Type II diabetes mellitus, Hypoplasia of penis	ORPHA:2377
Mental Retardation, Autosomal Recessive 65	Cryptorchidism, Hypoplasia of the corpus callosum, Hypospadias	OMIM:618109
Boomerang Dysplasia	Cryptorchidism, Decreased response to growth hormone stimuation test	ORPHA:1263
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Cryptorchidism, High, narrow palate	OMIM:273390
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cryptorchidism, Scrotal hypoplasia, Ambiguous genitalia, Hypoplasia of penis	ORPHA:168593
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation	High palate, Cryptorchidism, Decreased testicular size, Microcephaly	ORPHA:85279
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligospermia	OMIM:314300
Temple Syndrome	Cryptorchidism, Maturity-onset diabetes of the young, Decreased testicular size, Cleft palate, Bi...	OMIM:616222
Meningioma	Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio...	ORPHA:2495
Hemochromatosis, Type 1	Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m...	OMIM:235200
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures	Cryptorchidism	OMIM:618822
Urofacial Syndrome 1	Urethral valve, Cryptorchidism, Urethral obstruction	OMIM:236730
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, Furrowed tongue, Cerebral cortical atrophy, Hypogonadotropic hypogonadism, High p...	ORPHA:1387
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Cerebral cortical atrophy	ORPHA:404451
Myotonic Dystrophy 1	Hypogonadism, Cerebral atrophy, Testicular atrophy, Cholelithiasis	OMIM:160900
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Abnormality of the Leydig cells, Megalencephaly, Cleft palate, Testicular atrophy...	ORPHA:3063
X-Linked Intellectual Disability, Seemanova Type	High palate, Cryptorchidism, Hypogonadism, Microcephaly	ORPHA:85323
Acrocallosal Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Hypospadias	ORPHA:36
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, High palate	ORPHA:178148
Neurofibromatosis-Noonan Syndrome	Cryptorchidism	ORPHA:638
Pituitary Gigantism	Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir...	ORPHA:99725
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe...	ORPHA:247768
Global Developmental Delay With Speech And Behavioral Abnormalities	Cryptorchidism, Anal atresia, Microcephaly, Supernumerary nipple, Precocious puberty	OMIM:619243
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cleft palate	OMIM:164180
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism	OMIM:615824
Congenital Muscular Dystrophy With Intellectual Disability	Cryptorchidism, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callos...	ORPHA:370968
Pituitary Hormone Deficiency, Combined, 2	Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr...	OMIM:262600
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Microcephaly, Scrotal hypoplasia, Micropenis	OMIM:615597
Myopathy, Congenital, Bailey-Bloch	Cryptorchidism, High palate, Microcephaly, Cleft palate	OMIM:255995
Microphthalmia With Linear Skin Defects Syndrome	Ambiguous genitalia, Abnormal testis morphology, Absent septum pellucidum, Abnormal penis morphol...	ORPHA:2556
46,Xy Sex Reversal 10	Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro...	OMIM:616425
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Cryptorchidism, Microcephaly, Hypospadias	OMIM:604273
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Isolated Thyroid-Stimulating Hormone Deficiency	Macroglossia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased cir...	ORPHA:90674
X-Linked Lissencephaly With Abnormal Genitalia	Cryptorchidism, Ambiguous genitalia, Hypohidrosis, Pachygyria, Exocrine pancreatic insufficiency,...	ORPHA:452
48,Xyyy Syndrome	Male hypogonadism, Azoospermia, Primary gonadal insufficiency	ORPHA:99329
Prolactinoma	Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D...	ORPHA:2965
Seckel Syndrome 5	Cryptorchidism, Clitoral hypertrophy, Abnormal cortical gyration, High palate, Microcephaly	OMIM:613823
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis	OMIM:618504
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea	OMIM:616946
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cryptorchidism, Type I diabetes mellitus, Cerebral cortical atrophy	ORPHA:1192
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cryptorchidism, High palate, Cerebral atrophy, Microcephaly	OMIM:611890
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism	OMIM:615633
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy	Elevated circulating luteinizing hormone level, Anal atresia, Elevated circulating follicle stimu...	OMIM:618419
Warburg Micro Syndrome 1	Cryptorchidism, Hypoplasia of the corpus callosum, Cerebral atrophy, External genital hypoplasia,...	OMIM:600118
Distal Trisomy 15Q	Cryptorchidism, Anal atresia, Abnormality of female external genitalia, High palate, Microcephaly	ORPHA:1707
Holoprosencephaly, Recurrent Infections, And Monocytosis	Cryptorchidism, Microcephaly, Micropenis, Agenesis of corpus callosum	OMIM:610680
Li-Campeau Syndrome	Cryptorchidism, Micropenis, Hypothyroidism	OMIM:619189
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra...	ORPHA:90794
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea	OMIM:607080
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Oligomenorrhea, Pituitary hypothyroidism, Hypopituitarism, Impotence, Adrenocorticotropic hormone...	ORPHA:91354
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism	OMIM:224410
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cryptorchidism, High palate, Cleft palate	OMIM:619110
Ring Chromosome 21 Syndrome	Diabetes insipidus, Infertility, Azoospermia, Amenorrhea	ORPHA:1445
Caudal Duplication	Abnormal penis morphology, Cryptorchidism, Uterus didelphys, Intestinal duplication	ORPHA:1756
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Absence of labia majora, Hypoplastic labia minora, Decreased serum testosterone c...	ORPHA:495875
Distal Monosomy 10P	Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Cleft palate, Microcephaly, Hypop...	ORPHA:1580
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Cryptorchidism, Macroglossia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m...	OMIM:300354
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, Hamartoma of tongue	ORPHA:1338
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro...	OMIM:300845
Seizures-Scoliosis-Macrocephaly Syndrome	Cryptorchidism, Microcephaly	ORPHA:466926
Wt Limb-Blood Syndrome	Cryptorchidism	OMIM:194350
Ruvalcaba Syndrome	Cryptorchidism, Delayed puberty, Microcephaly	OMIM:180870
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Shawl scrotum, Hypoplasia of penis	ORPHA:2256
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	High palate, Pyloric stenosis, Bilateral cryptorchidism	ORPHA:314575
Puerto Rican Infant Hypotonia Syndrome	Cryptorchidism, High palate, Narrow palate	OMIM:600096
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Protruding tongue, Macroorchidism	ORPHA:324410
Perlman Syndrome	Cryptorchidism, Hyperinsulinemia, Hypoplasia of penis, Abnormal pancreas morphology, High, narrow...	ORPHA:2849
Abruzzo-Erickson Syndrome	Cryptorchidism, Cleft palate, Coronal hypospadias, Hypospadias	ORPHA:921
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Microcephaly, Cleft palate	OMIM:612530
Myopathy, Congenital, Progressive, With Scoliosis	Cryptorchidism, High palate	OMIM:618578
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cryptorchidism, Microcephaly, Cerebral cortical atrophy, Cleft palate	ORPHA:1166
3-Methylglutaconic Aciduria, Type V	Cryptorchidism, Decreased testicular size, Hypospadias	OMIM:610198
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Cryptorchidism, Perianal abscess, Micropenis	OMIM:614684
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Hypergonadotropic hypogonadism, Cerebral atrophy, Primary amenorrhea, Hypogonadotropic hypogonadi...	OMIM:604168
Aniridia-Absent Patella Syndrome	Cryptorchidism	ORPHA:1069
Snijders Blok-Fisher Syndrome	Cryptorchidism, Hypoplasia of the corpus callosum, Hypoplasia of the olfactory bulb	OMIM:618604
Au-Kline Syndrome	Cryptorchidism, High palate, Cleft palate	OMIM:616580
Pontocerebellar Hypoplasia, Type 10	Cryptorchidism, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cer...	OMIM:615803
Glycerol Kinase Deficiency	Cryptorchidism, Adrenocortical hypoplasia, Adrenal insufficiency	OMIM:307030
Combined Oxidative Phosphorylation Deficiency 47	Cryptorchidism, Microcephaly	OMIM:618958
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Decreased serum insulin-like growth factor 1, Oli...	ORPHA:79239
Tsh-Secreting Pituitary Adenoma	Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration...	ORPHA:91347
Beemer-Ertbruggen Syndrome	Cryptorchidism, Ambiguous genitalia	ORPHA:1237
Leukoencephalopathy With Vanishing White Matter	Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Decreased circulating ...	OMIM:603896
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Enlarged ...	ORPHA:90301
Kallmann Syndrome	Cryptorchidism, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erectile dys...	ORPHA:478
Chung-Jansen Syndrome	Cryptorchidism, High palate	OMIM:617991
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Bicornuate uterus, Hypoplasia of the uterus, Azoospermia	OMIM:601076
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Cryptorchidism, Decreased testicular size, Progressive microcephaly, Hypospadias	OMIM:300998
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Cerebral atrophy, Progressive microcephaly	OMIM:618917
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cryptorchidism, Macroglossia, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Micro...	OMIM:613156
Skeletal Defects, Genital Hypoplasia, And Mental Retardation	Cryptorchidism, Microcephaly, Micropenis	OMIM:612447
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Microcephaly, Hyperhidrosis, Congenital pyloric atresia	ORPHA:2617
Lymphatic Malformation 4	Hydrocele testis	OMIM:615907
48,Xxyy Syndrome	Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Type II diabetes mellit...	ORPHA:10
Inverted Duplicated Chromosome 15 Syndrome	Cryptorchidism, Hypogonadism, High palate, Gonadal dysgenesis, Microcephaly, Precocious puberty	ORPHA:3306
Heart-Hand Syndrome Type 2	Cryptorchidism	ORPHA:1350
Mccune-Albright Syndrome	Hyperparathyroidism, Elevated circulating growth hormone concentration, Increased circulating cor...	OMIM:174800
Mcdonough Syndrome	Cryptorchidism	ORPHA:2471
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Scrotal hypoplasia, Hypoplasia of penis, Decreased testicular size, Hypogonadism,...	ORPHA:127
Developmental And Epileptic Encephalopathy 66	Cryptorchidism	OMIM:618067
Pituitary Adenoma 1, Multiple Types	Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma...	OMIM:102200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hypoplastic female external genitalia, Hypoplasia of the corpus callosum, Agenesi...	OMIM:618577
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u...	OMIM:110100
Hereditary Bullous Dystrophy, Macular Type	Cryptorchidism, Decreased testicular size, Microcephaly, External genital hypoplasia	ORPHA:1867
X-Linked Acrogigantism	Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul...	ORPHA:300373
Ohdo Syndrome, X-Linked	Cryptorchidism, Scrotal hypoplasia	OMIM:300895
X-Linked Intellectual Disability, Pai Type	Cryptorchidism, Hydrocele testis	ORPHA:85322
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Intestinal malrotation, Abnormal internal genitalia, Anal atresia, Abno...	ORPHA:2973
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Delay...	OMIM:614963
Verloove Vanhorick-Brubakk Syndrome	Cryptorchidism, Abnormality of the parathyroid gland, Cleft palate	ORPHA:3429
Robinow Syndrome	Cryptorchidism, Ankyloglossia, Webbed penis, Scrotal hypoplasia, External genital hypoplasia, Cli...	ORPHA:97360
Webb-Dattani Syndrome	Cryptorchidism, Hypoplasia of the corpus callosum, Secondary microcephaly, Pituitary hypothyroidi...	OMIM:615926
Distal Monosomy 7Q36	Cryptorchidism, Cleft palate, Microcephaly, Hypoplasia of penis	ORPHA:1636
Ovarian Hyperstimulation Syndrome	Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy...	ORPHA:64739
Nephrotic Syndrome, Type 14	Cryptorchidism, Hypothyroidism, Adrenal insufficiency, Microcephaly, Hypogonadism, Micropenis	OMIM:617575
Acrodysostosis 2 With Or Without Hormone Resistance	Cryptorchidism, Congenital hypothyroidism, Diabetes mellitus, Hypospadias	OMIM:614613
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am...	ORPHA:2235
Silver-Russell Syndrome Due To A Point Mutation	Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Hypothyroidism, Cleft pa...	ORPHA:397590
Mental Retardation, Autosomal Dominant 21	Cryptorchidism, Microcephaly, Cleft palate	OMIM:615502
Aminopterin Syndrome Sine Aminopterin	Cryptorchidism, Megalencephaly, Cleft palate, High palate, Microcephaly	OMIM:600325
Pituitary Dermoid And Epidermoid Cysts	Panhypopituitarism, Oligospermia, Amenorrhea, Enlarged pituitary gland, Oligomenorrhea, Neoplasm ...	ORPHA:91351
Prune Belly Syndrome	Cryptorchidism, Urethral valve, Xerostomia, Anal atresia, Congenital posterior urethral valve	OMIM:100100
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Cryptorchidism, Maturity-onset diabetes of the young, Cleft palate, Bifid uvula, High palate, Pyl...	ORPHA:96184
Sim1-Related Prader-Willi-Like Syndrome	Cryptorchidism, Infertility, Premature pubarche, Premature adrenarche, Scrotal hypoplasia, Small ...	ORPHA:398079
Cornelia De Lange Syndrome 5	Cryptorchidism, High palate, Microcephaly, Cleft palate, Decreased testicular size, Hypogonadism,...	OMIM:300882
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	High palate, Cryptorchidism, Delayed puberty	ORPHA:486815
Pierpont Syndrome	Cryptorchidism, Abnormal cortical gyration, Primary microcephaly	ORPHA:487825
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Cryptorchidism, Microcephaly	OMIM:615419
Mend Syndrome	Cryptorchidism, High palate	OMIM:300960
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Microcephaly, Hypothyroidism	OMIM:603736
Prune Belly Syndrome	Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly, Intestinal malrotation, Anal...	ORPHA:2970
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hypoplasia of the corpus callosum, Hypospadias, Pyloric stenosis, Agenesis of cor...	OMIM:218350
Weaver Syndrome	Cryptorchidism, Hypoplasia of penis	ORPHA:3447
Urban-Rogers-Meyer Syndrome	Cryptorchidism, Hypogonadism, Hypoplasia of penis	ORPHA:3409
Distal Trisomy 18Q	Cryptorchidism, High palate, Abnormality of female external genitalia, Hypoplasia of penis	ORPHA:1716
Wolfram Syndrome 1

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