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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dhh mutations

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

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

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

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

Disease Similarity of
phenotypes
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