Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Renal agenesis, Unilateral cryptorchidism |
OMIM:219050 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
7P22.1 Microduplication Syndrome |
|
Cryptorchidism, Abnormality of the kidney |
ORPHA:314034 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis |
ORPHA:85274 |
Gemignani Syndrome |
|
Hypoplasia of penis, Abnormal testis morphology, Delayed puberty |
ORPHA:2074 |
Image Syndrome |
|
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Hydronephrosis |
ORPHA:85173 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... |
OMIM:264600 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility |
OMIM:261550 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... |
ORPHA:48 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Hao-Fountain Syndrome |
|
Cryptorchidism, Micropenis, Premature adrenarche |
OMIM:616863 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism |
ORPHA:1074 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Polymicrogyria |
OMIM:300982 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism |
OMIM:309585 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism |
ORPHA:1568 |
3Q13 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Abnormality of the urinary system |
ORPHA:1621 |
Polydactyly-Myopia Syndrome |
|
Cryptorchidism |
ORPHA:2917 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Idiopathic Isolated Micropenis |
|
Ambiguous genitalia, Micropenis, Hypospadias |
ORPHA:95707 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85287 |
Macdermot-Winter Syndrome |
|
Hydronephrosis, Hypoplastic male external genitalia |
OMIM:247990 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... |
ORPHA:752 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:310465 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia |
OMIM:615703 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Bowen-Conradi Syndrome |
|
Cryptorchidism |
ORPHA:1270 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... |
OMIM:314300 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism |
ORPHA:2022 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... |
OMIM:275400 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... |
OMIM:610628 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Hypogonadism, Decreased testicular size |
ORPHA:261483 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism |
ORPHA:1918 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:1381 |
Paternal Uniparental Disomy Of Chromosome X |
|
Infertility, Micropenis, Decreased testicular size |
ORPHA:261524 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... |
OMIM:613390 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia |
OMIM:617564 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Hypospadias |
OMIM:101805 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Micropenis |
ORPHA:85282 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Micropenis, Hypospadias |
OMIM:618840 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:250994 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... |
ORPHA:3363 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Isolated Hemihyperplasia |
|
Cryptorchidism, Nephroblastoma |
ORPHA:2128 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614962 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... |
OMIM:300200 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Tetralogy Of Fallot |
|
Cryptorchidism |
ORPHA:3303 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Autosomal Recessive Amelia |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:1027 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Gordon Syndrome |
|
Cryptorchidism |
ORPHA:376 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, Hydronephrosis |
OMIM:618578 |
Stt3A-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370921 |
8p23.1 deletion syndrome |
|
Cryptorchidism |
DECIPHER:39 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, 3-Methylglutaric aciduria |
OMIM:250951 |
Retinitis Pigmentosa 59 |
|
Cryptorchidism, Micropenis, Renal insufficiency |
OMIM:613861 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Simplified gyral pattern |
OMIM:619180 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:612626 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus... |
ORPHA:1756 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Ventral shortening of foreski... |
ORPHA:95706 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis |
OMIM:615996 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Hypospadias, Simplified gyral pattern |
OMIM:618815 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism |
ORPHA:408 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism |
ORPHA:2489 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Cryptorchidism, Simplified gyral pattern |
OMIM:616681 |
Mmep Syndrome |
|
Cryptorchidism |
ORPHA:3434 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Cryptorchidism |
ORPHA:1174 |
Proximal Xq28 Duplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:1762 |
Prune Belly Syndrome |
|
Cryptorchidism, Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm |
OMIM:308100 |
Crandall Syndrome |
|
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism |
ORPHA:202 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370924 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis |
ORPHA:2083 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... |
OMIM:244200 |
Intellectual Developmental Disorder, X-Linked 93 |
|
Cryptorchidism |
OMIM:300659 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Small scrotum |
OMIM:615597 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:612370 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Cryptorchidism, Hypoplastic male external genitalia |
OMIM:618823 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:301830 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Joubert Syndrome 37 |
|
Hydronephrosis, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:619185 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Cryptorchidism, Hypospadias, Decreased testicular size |
OMIM:300997 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Unilateral cryptorchidism |
OMIM:618286 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:168593 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Type II diabetes mellitus, Displacement... |
ORPHA:2377 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Urinary incontinence, Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Dec... |
ORPHA:320391 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Hydronephrosis |
OMIM:619797 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis, Unilateral renal agenesis |
OMIM:618504 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto... |
OMIM:604317 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Micropenis, Delayed puberty, Hypoplasia of the prostate |
OMIM:301900 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch... |
OMIM:614732 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... |
ORPHA:95496 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Abnormal morphology o... |
ORPHA:1926 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia |
ORPHA:93328 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Abnormality of neuronal migration |
ORPHA:2772 |
Birk-Aharoni Syndrome |
|
Duplicated collecting system, Cryptorchidism, Micropenis |
OMIM:620071 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Intellectual Developmental Disorder, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Mosaic Trisomy 14 |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:1703 |
Intellectual Disability, Wolff Type |
|
Cryptorchidism, Hypospadias |
ORPHA:3080 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:619310 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decreased fertility, Hypogo... |
ORPHA:2234 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias |
OMIM:616910 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Hypospadias |
OMIM:620135 |
Trisomy 4P |
|
Cryptorchidism, Hypospadias |
ORPHA:1738 |
Non-Distal Duplication 10Q |
|
Cryptorchidism, Abnormality of the urinary system |
ORPHA:1695 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Lissencephaly, Test... |
ORPHA:281090 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum |
ORPHA:2256 |
Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism |
OMIM:618298 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Toluene Embryopathy |
|
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Acrocallosal Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:36 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... |
OMIM:608800 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum |
OMIM:615433 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism |
OMIM:616816 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Cryptorchidism, Hydronephrosis |
ORPHA:531151 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism |
ORPHA:461 |
Li-Campeau Syndrome |
|
Cryptorchidism, Micropenis, Hypothyroidism |
OMIM:619189 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:261102 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples |
OMIM:616001 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
Abruzzo-Erickson Syndrome |
|
Cryptorchidism, Hypospadias, Coronal hypospadias, Abnormal localization of kidney |
ORPHA:921 |
Alazami-Yuan Syndrome |
|
Cryptorchidism |
OMIM:617126 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Decreased response to growth hormone stimulation test, Hydronephrosis, Unilateral... |
OMIM:609757 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Hydroneph... |
OMIM:222300 |
49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Hypothyroid... |
OMIM:617575 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism |
OMIM:618512 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Cryptorchidism |
OMIM:615633 |
Branchial Arch Syndrome, X-Linked |
|
Cryptorchidism |
OMIM:301950 |
Coffin-Siris Syndrome 8 |
|
Cryptorchidism |
OMIM:618362 |
Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C... |
ORPHA:2510 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism, Renal hypoplasia/aplasia |
ORPHA:2863 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism |
OMIM:601794 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:614838 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Cryptorchidism |
OMIM:618766 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism |
ORPHA:2958 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia... |
ORPHA:85450 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism |
OMIM:618393 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Micropenis |
OMIM:614684 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Cryptorchidism, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy |
ORPHA:1192 |
Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Long penis |
ORPHA:1672 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, ... |
ORPHA:83628 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... |
ORPHA:3085 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Cryptorchidism |
OMIM:273390 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Delayed puberty, Micropenis |
OMIM:147950 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Pachygyria |
ORPHA:452 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Cryptorchidism, Micropenis |
OMIM:612447 |
Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Hydronephrosis |
OMIM:179613 |
Wilson-Turner Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
ORPHA:3459 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Prieto Syndrome |
|
Cryptorchidism |
OMIM:309610 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cryptorchidism, Micropenis |
ORPHA:370968 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... |
ORPHA:90791 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Hypo... |
OMIM:615849 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Cryptorchidism |
ORPHA:319332 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Decreased te... |
OMIM:610198 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellitus, Renal hypoplasia/aplasia, C... |
ORPHA:261265 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Fetal Akinesia Deformation Sequence 2 |
|
Cryptorchidism |
OMIM:618388 |
Perlman Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia, Nephroblastoma |
ORPHA:2849 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Cryptorchidism |
ORPHA:67044 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vaginal atresia |
OMIM:615989 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism |
OMIM:210700 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Sex reversal, ... |
ORPHA:139466 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Congenital Myopathy 9A |
|
Cryptorchidism |
OMIM:618822 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uteru... |
OMIM:154230 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Hydronephrosis, Dysgyria |
OMIM:620327 |
Trisomy 13 |
|
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... |
ORPHA:3378 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Cryptorchidism, Simplified gyral pattern, Hypogonadism, Delayed puberty, Micropenis,... |
OMIM:300354 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:613970 |
Imagawa-Matsumoto Syndrome |
|
Cryptorchidism, Polymicrogyria |
OMIM:618786 |
Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism, Abnormality of the kidney |
ORPHA:466926 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen... |
ORPHA:261344 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Hashimoto thyroiditis, Renovascular hypertension, Renal tubular epi... |
ORPHA:49041 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Cryptorchidism |
ORPHA:1338 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Cryptorchidi... |
OMIM:258040 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism |
OMIM:601349 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Inc... |
OMIM:614736 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... |
ORPHA:2473 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cryptorchidism, Premature pubarche |
ORPHA:457205 |
Penoscrotal Transposition |
|
Abnormal external genitalia, Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal... |
ORPHA:2842 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cryptorchidism, Micropenis, Hydronephrosis |
ORPHA:364028 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Polymicrogyria, Hydronephrosis |
OMIM:618494 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis |
OMIM:617516 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cryptorchidism, Microphallus, Abnormality of neuronal migration |
OMIM:300957 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hypospadias, Horseshoe kidney |
OMIM:218350 |
Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism |
ORPHA:638 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85279 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter, Hypogonadism |
ORPHA:3409 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... |
OMIM:137920 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular size |
ORPHA:127 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... |
ORPHA:314588 |
Weaver Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:3447 |
Distal Monosomy 7Q36 |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:1636 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Cryptorchidism, Micropenis, Hypospadias |
ORPHA:2872 |
Arthrogryposis, Distal, Type 1C |
|
Cryptorchidism |
OMIM:619110 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Decreased testicular size, Cryptorchidism, Hypogonadism, Micropenis, Pachygyria, Hydronephrosis |
OMIM:612513 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... |
ORPHA:49 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism |
ORPHA:404451 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... |
OMIM:236700 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormality of the scrotum, Microphallu... |
ORPHA:397590 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Distal Duplication 18Q |
|
Cryptorchidism, Hypoplasia of penis, Abnormality of female external genitalia |
ORPHA:1716 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
Wt Limb-Blood Syndrome |
|
Cryptorchidism |
OMIM:194350 |
Suleiman-El-Hattab Syndrome |
|
Cryptorchidism, Hydronephrosis |
OMIM:618950 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Cryptorchidism |
OMIM:164180 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:619908 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Primary adrenal insufficiency, Polymic... |
ORPHA:912 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Micropenis |
OMIM:613156 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Chronic kidney disease, Oligozoosper... |
ORPHA:330015 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Renal hypoplasia, Hypoth... |
ORPHA:85321 |
Warburg Micro Syndrome 1 |
|
Cryptorchidism, Perisylvian polymicrogyria, External genital hypoplasia |
OMIM:600118 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy |
ORPHA:85201 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Cryptorchidism, Renal hypoplasia, Vesicoureteral refl... |
ORPHA:85284 |
Seckel Syndrome 5 |
|
Hypospadias, Abnormal cortical gyration, Cryptorchidism, Simplified gyral pattern, Clitoral hyper... |
OMIM:613823 |
Aniridia-Absent Patella Syndrome |
|
Cryptorchidism |
ORPHA:1069 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Hydronephrosis |
ORPHA:251076 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism |
ORPHA:178148 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:619595 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
Tonne-Kalscheuer Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Decreased testicular size |
OMIM:300978 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, External genital hypoplasia |
ORPHA:1867 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of... |
ORPHA:1988 |
Diphallia |
|
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista... |
ORPHA:227 |
2Q23.1 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:228402 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology, Hydronephrosis, Abnormali... |
ORPHA:1655 |
X-Linked Intellectual Disability, Pai Type |
|
Hydrocele testis, Cryptorchidism |
ORPHA:85322 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Diabetes mellitus, Hypospadias, Congenital hypothyroidism |
OMIM:614613 |
Cornelia De Lange Syndrome 5 |
|
Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size |
OMIM:300882 |
Filippi Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
OMIM:272440 |
Distal Duplication 15Q |
|
Cryptorchidism, Abnormality of female external genitalia |
ORPHA:1707 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias |
OMIM:616489 |
Currarino Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Vesicoureteral reflux |
ORPHA:1552 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Micropenis, Hydronephrosis |
OMIM:617798 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hypoplastic female external genitalia |
OMIM:618577 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo... |
ORPHA:254516 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... |
ORPHA:96179 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cryptorchidism |
OMIM:611890 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias, Abnormality of the kidney |
ORPHA:1194 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis, Hyd... |
OMIM:301056 |
Fg Syndrome 3 |
|
Cryptorchidism |
OMIM:300406 |
Snijders Blok-Fisher Syndrome |
|
Cryptorchidism |
OMIM:618604 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, Ty... |
ORPHA:10 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Cryptorchidism, Pachygyria, Lissencephaly |
OMIM:620316 |
Ritscher-Schinzel Syndrome 1 |
|
Adrenal hypoplasia, Hypospadias, Hydronephrosis, Decreased response to growth hormone stimulation... |
OMIM:220210 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Cryptorchidism, Hypospadias, Renal dysplasia |
OMIM:300004 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Aplasia/Hypoplasia of the thymus, Urethral stenosis, Hydrone... |
ORPHA:1727 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism |
ORPHA:3306 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:618917 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy... |
ORPHA:2075 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Cryptorchidism, Small scrotum |
ORPHA:1970 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism |
ORPHA:314575 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
Rahman Syndrome |
|
Cryptorchidism |
OMIM:617537 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Perisylvian polymicrogyria, Micropenis, Decreased testicular size |
OMIM:615663 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes mellitus, Diabetes insipidus, Hydronephrosis, Hydroureter |
OMIM:598500 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Cry... |
ORPHA:3027 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Cryptorchidism, Hydronephrosis |
ORPHA:457193 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland, Abnormal localization of kidney |
ORPHA:3429 |
Microphthalmia, Syndromic 5 |
|
Cryptorchidism, Micropenis, Ectopic posterior pituitary |
OMIM:610125 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hypothyroidism, Hydrone... |
ORPHA:96169 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Micropenis, Hydronephrosis |
OMIM:235255 |
Mcdonough Syndrome |
|
Cryptorchidism |
ORPHA:2471 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the ... |
ORPHA:96092 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas, Abnormali... |
ORPHA:2470 |
Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... |
OMIM:164745 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis |
OMIM:619718 |
Noonan Syndrome 9 |
|
Cryptorchidism, Hydroureter |
OMIM:616559 |
Chromosome 16Q22 Deletion Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:614541 |
Boomerang Dysplasia |
|
Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
Endove Syndrome, Limb-Only Type |
|
Hypoplastic labia majora, Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
ORPHA:1387 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism |
OMIM:618958 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Rena... |
ORPHA:261494 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Abnormality of the ... |
ORPHA:847 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Cryptorchidism, Horseshoe kidney, Hypoplastic male external genitalia |
ORPHA:502434 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias |
OMIM:606851 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Ectopic kidney |
ORPHA:401935 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Cryptorchidism, Shawl scrotum |
ORPHA:1778 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
3Mc Syndrome 3 |
|
Bifid scrotum, Cryptorchidism, Horseshoe kidney, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Delayed puberty |
OMIM:180870 |
Noonan Syndrome 4 |
|
Cryptorchidism, Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Abnormal vagina morphology, Abnormality of t... |
ORPHA:2315 |
X-Linked Intellectual Disability, Seemanova Type |
|
Cryptorchidism, Hypogonadism |
ORPHA:85323 |
Chung-Jansen Syndrome |
|
Cryptorchidism |
OMIM:617991 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:175700 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Cryptorchidism, Abnormality of the scrotum, Small scrotum, Hypospadias |
ORPHA:2505 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple ... |
ORPHA:99776 |
Carpenter Syndrome |
|
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia |
ORPHA:65759 |
Freeman-Sheldon Syndrome |
|
Cryptorchidism |
ORPHA:2053 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Aminoaciduria, Diabetes mellitus |
OMIM:249270 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Decreased... |
OMIM:146510 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:77298 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:3082 |
Heart-Hand Syndrome Type 2 |
|
Cryptorchidism |
ORPHA:1350 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism |
ORPHA:589905 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:435938 |
Chromosome 18P Deletion Syndrome |
|
Gonadal dysgenesis, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:146390 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Unilateral cryptorchidism |
OMIM:300946 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, Hypospadias |
ORPHA:98791 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Cryptorchidism |
OMIM:618484 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Hypogonadotropic hy... |
ORPHA:398079 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism |
OMIM:615502 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:617788 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Cryptorchidism |
OMIM:615419 |
Qazi-Markouizos Syndrome |
|
Cryptorchidism |
ORPHA:3010 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Supernumerary nipple |
OMIM:617635 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Cryptorchidism, Delayed puberty |
ORPHA:486815 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Cryptorchidism, Micropenis, Small scrotum, Microphallus |
OMIM:300486 |
Trigonocephaly 1 |
|
Long penis |
OMIM:190440 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Thyroid carcinoma, Penile freckling |
ORPHA:210548 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism |
ORPHA:2617 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... |
ORPHA:730 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Ohdo Syndrome |
|
Cryptorchidism, Small scrotum, Proteinuria |
OMIM:249620 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Small scrotum, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism |
ORPHA:2519 |
Lig4 Syndrome |
|
Cryptorchidism, Type II diabetes mellitus, Micropenis, Hypothyroidism, Amenorrhea |
OMIM:606593 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Cryptorchidism, Decreased testicular size, Hydronephrosis |
ORPHA:96061 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... |
OMIM:612650 |
Martin-Probst Syndrome |
|
Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mi... |
OMIM:300519 |
German Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:2077 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Hydronephrosis |
OMIM:611209 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... |
ORPHA:97362 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... |
ORPHA:2059 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Schaaf-Yang Syndrome |
|
Cryptorchidism, Micropenis, Hypogonadism |
OMIM:615547 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Micropenis, Polymicrogyria |
OMIM:614225 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ... |
OMIM:601186 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Cryptorchidism, Shawl scrotum, Micropenis, Hydronephrosis |
OMIM:301040 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis |
ORPHA:3134 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... |
ORPHA:168558 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Cryptorchidism, Small scrotum, Hypogonadism |
ORPHA:228390 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Cryptorchidism, Hypospadias, Supernumerary nipple |
OMIM:618109 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Cryptorchidism |
ORPHA:1912 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Con... |
OMIM:618336 |
48,Xxxy Syndrome |
|
Renal dysplasia, Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, I... |
ORPHA:96263 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Renal hypoplasia, Pseudohypoparathyroidism, ... |
ORPHA:464288 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Decreased testicular size, Maturity-onset diabetes of the young |
OMIM:616222 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydroneph... |
OMIM:618653 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
49,Xxxxy Syndrome |
|
Renal dysplasia, Hypoplasia of penis, Small scrotum, Renal hypoplasia/aplasia, Cryptorchidism, Az... |
ORPHA:96264 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism |
OMIM:620012 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Triploidy |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:3376 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Hypospadias, Hypothyroidism |
OMIM:603736 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hypospadias |
OMIM:601499 |
Trisomy 8Q |
|
Cryptorchidism, Hypoplasia of penis, Displacement of the urethral meatus |
ORPHA:1752 |
Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Carpenter Syndrome 1 |
|
Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hydronephrosis |
OMIM:201000 |
Crane-Heise Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:1512 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Septate vagina, Unil... |
ORPHA:2237 |
Blepharonasofacial Malformation Syndrome |
|
Cryptorchidism |
ORPHA:1252 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Cryptorchidism, Diabetes mellitus, Hypospadias, Polymicrogyria |
ORPHA:500159 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Unilateral cryptorchidism |
ORPHA:137634 |
Aminopterin Syndrome Sine Aminopterin |
|
Cryptorchidism |
OMIM:600325 |
Gapo Syndrome |
|
Dysmenorrhea, Nephrolithiasis, Oligozoospermia, Hypogonadism, Amenorrhea |
ORPHA:2067 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Cryptorchidism, Renal atrophy, Vesicoureteral reflux, Periventricular nodular hetero... |
OMIM:618659 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Abnormality of neuronal migration, Hydronep... |
ORPHA:7 |
Short Stature-Micrognathia Syndrome |
|
Cryptorchidism, Micropenis, Small scrotum, Penoscrotal hypospadias |
OMIM:617164 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Focal polymicrogyria, Cryptorchidism, Horseshoe ... |
OMIM:619103 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Renal agenesis, Bilateral cryptorchidism, Delayed puberty, Micrope... |
ORPHA:2326 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... |
OMIM:618454 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Gray matter heterotopia, Aminoaciduria, Albuminu... |
OMIM:214100 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism |
ORPHA:2701 |
Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Polymicrogyria, Hypospadias |
OMIM:618156 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic k... |
OMIM:262190 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Kapur-Toriello Syndrome |
|
Cryptorchidism, Hypoplastic labia majora, Abnormality of the urinary system, Micropenis, Pachygyr... |
OMIM:244300 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydrocele test... |
OMIM:614080 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum |
OMIM:600460 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Cryptorchidism, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Insulin-resistant diabetes mellitus, Primary ameno... |
ORPHA:293967 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormality of neuronal migration, Renal ... |
ORPHA:464311 |
Craniofacioskeletal Syndrome |
|
Cryptorchidism, Hypospadias, Hydronephrosis, Absent gallbladder |
OMIM:300712 |
Lig4 Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
Non-Distal Duplication 13Q |
|
Cryptorchidism |
ORPHA:1702 |
Buratti-Harel Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:619314 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Nicolaides-Baraitser Syndrome |
|
Cryptorchidism, Abnormal testis morphology |
ORPHA:3051 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration, Epispadias, Ab... |
ORPHA:2211 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Gray matter heterotopia, Micropenis, Hyd... |
OMIM:615287 |
Baraitser-Winter Syndrome 1 |
|
Cryptorchidism, Micropenis, Pachygyria, Lissencephaly |
OMIM:243310 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ... |
ORPHA:3097 |
Progressive Supranuclear Palsy |
|
Impulsivity, Unsteady gait, Abnormal synaptic transmission, Falls, Dysphagia |
ORPHA:683 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pelvic kidney, Horseshoe kidney |
OMIM:613951 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormalit... |
ORPHA:3157 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicoureteral reflux, Ambigu... |
OMIM:617159 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Absenc... |
OMIM:604292 |
King-Denborough Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism |
OMIM:619542 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism |
ORPHA:3282 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplas... |
OMIM:617053 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Delayed puberty |
OMIM:616817 |
Rin2 Syndrome |
|
Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism |
ORPHA:217335 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Cryptorchidism |
ORPHA:88639 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia |
ORPHA:1300 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Osteoglosphonic Dysplasia |
|
Cryptorchidism |
ORPHA:2645 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Vesicoureteral reflux, Micropenis |
OMIM:619951 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Penile freckling |
OMIM:605309 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty |
ORPHA:496790 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple, Periventricular heterotopia |
OMIM:618929 |
15Q24 Microdeletion Syndrome |
|
Cryptorchidism, Hypospadias, Microphallus, Decreased response to growth hormone stimulation test |
ORPHA:94065 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... |
ORPHA:813 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hypothyroidism, Breast hypoplasia |
ORPHA:1439 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias, Supernumerary nipple |
ORPHA:217346 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Proximal renal tubular acidosis |
OMIM:615824 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Polymicrogyria, Hypospadias |
ORPHA:457485 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Infertility, Erectile dysfu... |
ORPHA:465508 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Hypogonadism, Ab... |
ORPHA:251066 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Orofacial Cleft 15 |
|
Cryptorchidism |
OMIM:616788 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Diabetes mellitus, Cryptorchidism |
OMIM:615381 |
Tetraploidy |
|
Hydronephrosis, Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia |
ORPHA:3305 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Hypogonadism, Hydr... |
ORPHA:261349 |
Gorlin Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
ORPHA:377 |
Gabriele-De Vries Syndrome |
|
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Thyroid lymphangiectasia, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux... |
OMIM:235510 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cryptorchidism |
ORPHA:1145 |
Ruvalcaba Syndrome |
|
Hematuria, Cryptorchidism, Abnormal localization of kidney, Delayed puberty |
ORPHA:3121 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Micropenis |
OMIM:619847 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis |
ORPHA:163979 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Decreased fertility, Breast aplasia, Abnor... |
ORPHA:3138 |
Tyshchenko Syndrome |
|
Cryptorchidism, Supernumerary nipple |
OMIM:615102 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Aarskog-Scott Syndrome |
|
Cryptorchidism, Shawl scrotum |
ORPHA:915 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Mild proteinuria |
OMIM:619685 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydrone... |
ORPHA:2953 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis |
ORPHA:250989 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis, Clitoral hypertrophy |
OMIM:616449 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Breast hyp... |
ORPHA:464306 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Kleefstra Syndrome 1 |
|
Cryptorchidism, Micropenis, Abnormal renal morphology, Hypospadias |
OMIM:610253 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Coronal hypospadias |
OMIM:619859 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia |
OMIM:620073 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Hypospadias |
ORPHA:494344 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:98905 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis |
OMIM:312830 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Abnormal cortical gyration, Cryptorchidism, Abnormality of neuronal migratio... |
ORPHA:899 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism |
OMIM:616789 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Cryptorchidism, Maturity-onset diabetes of the young |
ORPHA:96184 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, E... |
OMIM:227650 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Hypospadias, Abnormality of the... |
ORPHA:2311 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Cryptorchidism |
OMIM:620365 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism |
ORPHA:250999 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Absenc... |
OMIM:129900 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Urinary incontinence |
ORPHA:169189 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Abnormality of t... |
ORPHA:2745 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Homocystinuria, Methylmalonic aciduria |
OMIM:614857 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Cryptorchidism, Abnormality of neuronal migration |
ORPHA:2063 |
Schuurs-Hoeijmakers Syndrome |
|
Cryptorchidism |
OMIM:615009 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Cryptorchidism, Testicular torsion |
ORPHA:75496 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasia, Micropha... |
OMIM:603467 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Autosomal Recessive Omodysplasia |
|
Cryptorchidism |
ORPHA:93329 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, 3-Methylglutaconic aciduria,... |
ORPHA:66634 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Kbg Syndrome |
|
Cryptorchidism |
ORPHA:2332 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Marden-Walker Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Renal hypoplasia |
OMIM:248700 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... |
OMIM:300707 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis |
ORPHA:2282 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Meier-Gorlin Syndrome 5 |
|
Cryptorchidism, Micropenis |
OMIM:613805 |
Hatipoglu Immunodeficiency Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:620331 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hypoplasia of penis, Congenital hypoparathyroidism |
ORPHA:2323 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia |
OMIM:614813 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Cryptorchidism, Gray matter heterotopia, Vesicoureteral reflu... |
OMIM:610443 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, External... |
ORPHA:97360 |
Distal Duplication 5Q |
|
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
8Q22.1 Microdeletion Syndrome |
|
Cryptorchidism, Hypogonadism |
ORPHA:178303 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Hypospadias |
ORPHA:1786 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, External genital hy... |
ORPHA:398069 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Male hypogonadism, Micropenis, Proteinuria |
OMIM:619471 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropen... |
OMIM:264480 |
Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, A... |
ORPHA:93930 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... |
ORPHA:1359 |
Arthrogryposis, Distal, Type 1A |
|
Cryptorchidism |
OMIM:108120 |
Postaxial Acrofacial Dysostosis |
|
Cryptorchidism, Micropenis, Abnormality of the kidney, Supernumerary nipple |
OMIM:263750 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Opitz Gbbb Syndrome |
|
Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posterior urethral valve, Vesicour... |
OMIM:300000 |
Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
Filippi Syndrome |
|
Cryptorchidism, Supernumerary nipple |
ORPHA:3255 |
Microphthalmia With Brain And Digit Anomalies |
|
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis |
ORPHA:139471 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryp... |
OMIM:229850 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Cryptorchidism |
OMIM:608093 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ... |
ORPHA:96147 |
Allan-Herndon-Dudley Syndrome |
|
Cryptorchidism, Abnormality of thyroid physiology |
ORPHA:59 |
Noonan Syndrome 6 |
|
Cryptorchidism |
OMIM:613224 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism |
OMIM:301039 |
13Q12.3 Microdeletion Syndrome |
|
Cryptorchidism |
ORPHA:412035 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, S... |
OMIM:616541 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... |
ORPHA:2588 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism |
OMIM:300578 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Hypothyroidism, Gray matter heterotopia, Vesicoureteral reflux, Abnormal bladder ... |
ORPHA:453499 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Hydronephrosis |
ORPHA:2839 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism |
OMIM:618440 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia |
ORPHA:2250 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism |
OMIM:310400 |
Xq12-Q13.3 Duplication Syndrome |
|
Cryptorchidism, Decreased serum insulin-like growth factor 1 |
ORPHA:314389 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasi... |
ORPHA:2874 |
Dowling-Degos Disease |
|
Scrotal hyperpigmentation, Penile freckling |
ORPHA:79145 |
Trisomy 8P |
|
Cryptorchidism, Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the ... |
ORPHA:264450 |
Cog5-Cdg |
|
Cryptorchidism, Micropenis, Neurogenic bladder, Urinary incontinence |
ORPHA:263487 |
Acrodysostosis |
|
Hypogonadism, Cryptorchidism, Abnormality of female external genitalia, Irregular menstruation |
ORPHA:950 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Renal hypoplasia/aplasia, Cryptorchidism, A... |
ORPHA:2166 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ambiguous genitalia, Cryptorchidism, Micropenis |
OMIM:614969 |
Ritscher-Schinzel Syndrome 4 |
|
Cryptorchidism, Micropenis |
OMIM:619435 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Ellis-Van Creveld Syndrome |
|
Epispadias, Hypospadias, Cryptorchidism |
OMIM:225500 |
Noonan Syndrome 8 |
|
Cryptorchidism |
OMIM:615355 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... |
OMIM:600901 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... |
ORPHA:363528 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypothyroidism, Supernumerary nipple |
ORPHA:1812 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Adrenal hypoplasia, Focal polymicrogyria, Cryptorchidism, Sex reversa... |
OMIM:612651 |
Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Breast hypoplasia |
OMIM:613804 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Focal polymicrogyria |
OMIM:619075 |
Fetal Akinesia Deformation Sequence |
|
Cryptorchidism |
ORPHA:994 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... |
ORPHA:96149 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis |
ORPHA:140 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... |
ORPHA:2437 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Simplified gyral pattern, Enuresis, Aplas... |
ORPHA:96121 |
Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism, Periventricular nodular heterotopia |
OMIM:619135 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Cryptorchidism, Small scrotum |
ORPHA:1968 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Micropenis, Small scrotum, Hypospadias |
OMIM:607143 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Uric acid nephro... |
OMIM:300661 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Perisylvian polymicrogyria |
OMIM:616638 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Hydrolethalus |
|
Cryptorchidism, Abnormal fallopian tube morphology |
ORPHA:2189 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Cryptorchidism, Hypothyroidism |
OMIM:608104 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Cryptorchidism, Hypospadias |
OMIM:613026 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Seckel Syndrome 1 |
|
Cryptorchidism, Pachygyria, Hypospadias, Clitoral hypertrophy |
OMIM:210600 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... |
OMIM:257300 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, ... |
OMIM:609029 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Lissencephaly |
OMIM:612938 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Cryptorchidism, Hypospadias |
OMIM:300260 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... |
ORPHA:2044 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves... |
OMIM:616580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size |
OMIM:300534 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Simplified gyral pattern |
OMIM:619244 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Hypothyroidism |
ORPHA:254346 |
Beckwith-Wiedemann Syndrome |
|
Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carci... |
OMIM:130650 |
Tarp Syndrome |
|
Cryptorchidism, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Clitoral hy... |
OMIM:214110 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Trisomy 18 |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Hydronephrosis, Abnormality of ... |
ORPHA:3380 |
Noonan Syndrome 5 |
|
Cryptorchidism |
OMIM:611553 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Abnormality of female external genitalia, Hydron... |
ORPHA:235 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Polymicr... |
ORPHA:3310 |
Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism |
OMIM:613266 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Cryptorchidism, Nephrolithiasis, Hypoplastic labia majora, Nephrocalcinosis, Clitoral hypoplasia,... |
OMIM:268310 |
X-Linked Mandibulofacial Dysostosis |
|
Cryptorchidism |
ORPHA:1131 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Periventricular nodular heterotopia, Cryptorchidism, Subcortical band... |
OMIM:615546 |
Acrocardiofacial Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hyperthyroidism, Hypospadias |
ORPHA:2008 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... |
OMIM:603457 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Periventricular heterotopia, ... |
OMIM:606170 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia |
ORPHA:3301 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Cryptorchidism |
ORPHA:163654 |
8Q21.11 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:284160 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism |
OMIM:224410 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Grade III ... |
OMIM:619522 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Cryptorchidism, Urachus fistula, Hypoplasia of the thymus, Hy... |
OMIM:612541 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Ureteropelvic junction obstruction, Duplicated collecting system, Small scrotum, H... |
OMIM:270400 |
Chromosome 1P35 Deletion Syndrome |
|
Cryptorchidism, Congenital hypothyroidism |
OMIM:617930 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital ... |
OMIM:136140 |
Chromosome 10Q26 Deletion Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Micropenis, Small scrotum |
OMIM:609625 |
Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Diabetes mellitus, Premature ovarian insuff... |
ORPHA:125 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Splenopancr... |
OMIM:269150 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cryptorchidism |
ORPHA:3304 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Abn... |
OMIM:608836 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... |
ORPHA:449395 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydronephrosis |
ORPHA:1340 |
Cockayne Syndrome Type 2 |
|
Male hypogonadism, Cryptorchidism |
ORPHA:90322 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Cryptorchidism, Micropenis |
ORPHA:363659 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Decreased testicul... |
OMIM:300998 |
Recombinant 8 Syndrome |
|
Cryptorchidism, Small scrotum, Abnormality of the kidney, Hypoplastic male external genitalia |
ORPHA:96167 |
Prader-Willi Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... |
OMIM:176270 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Cryptorchidism, Prominent scrotal raphe |
ORPHA:1555 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Micropenis, Hypogonadism |
ORPHA:500055 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Polymicrogyria, Hydronephrosis |
ORPHA:488613 |
Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Diabetes insipidus, Hydronephrosis |
ORPHA:35687 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Breast hypoplas... |
OMIM:613803 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypoplastic female external ge... |
ORPHA:1507 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Cryptorchidism, Hypoplastic nipples |
OMIM:618505 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Cryptorchidism, Urethral stenosis |
OMIM:613990 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Micropenis |
OMIM:614230 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Hypertrophy of the urinary bladder, Hydrocele testis, Unilateral renal dysplasia, Co... |
ORPHA:280633 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
3Mc Syndrome 2 |
|
Cryptorchidism, Hypospadias, Horseshoe kidney |
OMIM:265050 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Cryptorchidism |
OMIM:602471 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Renal cyst, Renal ... |
ORPHA:93271 |
Arthrogryposis, Distal, Type 3 |
|
Cryptorchidism |
OMIM:114300 |
Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
Alagille Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Delayed ... |
ORPHA:52 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gray matter heterotopia, Gonadal dys... |
OMIM:618820 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Simplified gyral pattern, Pachygyria, Hydronephrosis |
OMIM:619179 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... |
OMIM:227646 |
Apert Syndrome |
|
Hydronephrosis, Cryptorchidism, Vaginal atresia |
OMIM:101200 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Polymicrogyria |
ORPHA:1647 |
Cousin Syndrome |
|
Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis |
OMIM:260660 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Simplified gyral p... |
OMIM:614231 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Moderate albuminuria, Hydronephrosis, Type I diabetes mellitus |
OMIM:619269 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cryptorchidism, Hypospadias |
OMIM:217980 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypoplasia, Hydroneph... |
ORPHA:83617 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Neuroendocrine neoplasm |
ORPHA:404443 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias |
OMIM:614052 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Cryptorchidism, Small scrotum, Breast hypoplasia, Shawl scrotum |
OMIM:601353 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Cryptorchidism, Chordee, Supernumerary nipple |
OMIM:616728 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor... |
ORPHA:818 |
Ogden Syndrome |
|
Cryptorchidism |
ORPHA:276432 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Unilateral renal agenesis, Cryptorchidism, Gray matter heterotopia, Pachy... |
OMIM:620024 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:251071 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Thakker-Donnai Syndrome |
|
Rectovaginal fistula, Hydronephrosis |
ORPHA:1780 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... |
OMIM:227645 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Cryptorchidism, Penoscrotal transposition, Hypospadias |
OMIM:619148 |
Perlman Syndrome |
|
Nephrogenic rest, Renal hamartoma, Cryptorchidism, Nephroblastomatosis, Pancreatic islet-cell hyp... |
OMIM:267000 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto... |
ORPHA:289 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... |
OMIM:193300 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Horseshoe kidney, Abnormality of th... |
ORPHA:138 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:617602 |
Ohdo Syndrome, X-Linked |
|
Cryptorchidism, Micropenis, Small scrotum, Shawl scrotum |
OMIM:300895 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Cryptorchidism, Micropenis, Small scrotum, Abnormality of the kidney |
ORPHA:495818 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Cryptorchidism, Micropenis |
OMIM:616331 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormality of thyroid physiology, Abnormal cortical gyration, Hydronephrosis, Unilateral breast ... |
OMIM:300968 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... |
ORPHA:96182 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism |
OMIM:619123 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
C Syndrome |
|
Renal cortical cysts, Cryptorchidism, Clitoral hypertrophy |
OMIM:211750 |
Hartsfield Syndrome |
|
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus |
OMIM:615465 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ure... |
ORPHA:1896 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:363958 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis, Absent nipple |
OMIM:104350 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia |
ORPHA:1827 |
Macs Syndrome |
|
Cryptorchidism, Urethral stenosis, Hypergonadotropic hypogonadism |
OMIM:613075 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothy... |
OMIM:618183 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic labia minora, Hypoplast... |
ORPHA:2554 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary... |
OMIM:151100 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cryptorchidism, Micropenis |
OMIM:620224 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Periventricular heterotopia, Pachygyria, Cryptorchidism, ... |
ORPHA:468631 |
Neurofaciodigitorenal Syndrome |
|
Cryptorchidism, Unilateral renal agenesis |
ORPHA:2673 |
Noonan Syndrome With Multiple Lentigines |
|
Cryptorchidism, Hypospadias, Decreased fertility, Abnormal localization of kidney |
ORPHA:500 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, Penile hyposp... |
OMIM:620083 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Annular pancreas, Pachygyria, Hydronephrosis |
ORPHA:2308 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasi... |
ORPHA:264200 |
Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Gray matter heterotopia, Pelvic kidney, Lissencephaly, Pachygyria, Agyria |
OMIM:247200 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:101800 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Hypogonadism |
ORPHA:2990 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Microp... |
OMIM:206900 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogona... |
ORPHA:1606 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Premature thelarche, Cryptorchidism, Micropenis, Congenital hypothyr... |
OMIM:147920 |
Chromosome 15Q25 Deletion Syndrome |
|
Cryptorchidism, Dilatation of renal calices |
OMIM:614294 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis, Supernumerary nipple |
ORPHA:247262 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Bicornuate uterus, Hypoplasia of the ovary, Hypop... |
ORPHA:79328 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Cryptorchidism, Hypoplastic labia majora, Clitoral hypoplasia, Micropenis, Hydronephrosis, Renal ... |
OMIM:180700 |
Pitt-Hopkins Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple |
OMIM:610954 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Supernumerary nipple, Cryptorchidism, Gray matter heterotopia, Vesicoureteral reflux, Hypothyroid... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Supernumerary nipple, Cryptorchidism, Gray matter heterotopia, Vesicoureteral reflux, Hypothyroid... |
ORPHA:352665 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Polymicrogyria, Macrogyria, Lissencephaly, P... |
ORPHA:2995 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Diabetes insipidus, Hematuri... |
ORPHA:900 |
Ritscher-Schinzel Syndrome 2 |
|
Cryptorchidism |
OMIM:300963 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... |
OMIM:613457 |
Larsen Syndrome |
|
Cryptorchidism |
ORPHA:503 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Aplasia of the uterus,... |
OMIM:618280 |
Vacterl With Hydrocephalus |
|
Cryptorchidism, Renal hypoplasia/aplasia, Renal agenesis, Abnormal fallopian tube morphology |
ORPHA:3412 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... |
ORPHA:2658 |
Craniofrontonasal Syndrome |
|
Hypospadias, Cryptorchidism, Shawl scrotum, Unilateral breast hypoplasia, Breast hypoplasia |
OMIM:304110 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hydrocele testis, Hypoplastic nipples, Ureteropelvic junction obstr... |
OMIM:280000 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Pontocerebellar Hypoplasia, Type 10 |
|
Cryptorchidism, Simplified gyral pattern |
OMIM:615803 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Chordee, Hypospadias, Supernumerary nipple |
ORPHA:477993 |
Nablus Mask-Like Facial Syndrome |
|
Cryptorchidism, Micropenis, Hypoplastic nipples, Labial hypoplasia |
OMIM:608156 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism |
ORPHA:2378 |
Igg4-Related Aortitis |
|
Hydronephrosis |
ORPHA:449400 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Uretero... |
ORPHA:506358 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Micropenis |
OMIM:619005 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Hypospadias, Cryptorchidism, Breast aplasia, Vesicoureteral reflux, Micropeni... |
OMIM:617063 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:618846 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... |
ORPHA:495875 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cryptorchidism, Abnormality of the urinary system, Ureteral stenosis |
ORPHA:2719 |
16P13.11 Microdeletion Syndrome |
|
Cryptorchidism, Abnormality of neuronal migration |
ORPHA:261236 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... |
OMIM:620305 |
Distal Duplication 17Q |
|
Vesicoureteral reflux, Cryptorchidism, Renal duplication |
ORPHA:3379 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cryptorchidism |
OMIM:614438 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Agyria, Pachygyria, Cryptorchidism, Hypoplastic male external genitalia, Polymicrogyria, Renal dy... |
OMIM:236670 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism |
OMIM:613834 |
White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Rectovaginal fistula, Hypothyroidism, Hydronephrosis |
OMIM:619426 |
Chops Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Horseshoe kidney |
OMIM:616368 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Pollakisuria, Cryptorchidism, Shawl scrotum |
OMIM:227330 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Diabetes mellitus, Hydronephrosis |
ORPHA:541423 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, A... |
ORPHA:2636 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormality of the endocrine system, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst... |
ORPHA:798 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Nephrolithiasis, Abnormality of ... |
ORPHA:353281 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... |
OMIM:122470 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Cryptorchidism, Renal cyst, Macrogyria, Hypoplastic nipples, Polycystic kidney dyspl... |
OMIM:614866 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal cortical gyration, Bifid uterus, Gray matter heterotopia, Adrenal gland dys... |
OMIM:236680 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Cryptorchidism, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, Annular pancreas |
OMIM:147791 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Vesicoureteral reflux, Cryptorchidism, Clitoral hypoplasia, Micropenis |
OMIM:616894 |
Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu... |
ORPHA:84 |
Cerebellofaciodental Syndrome |
|
Cryptorchidism |
OMIM:616202 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Cryptorchidism, Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Vesicoureteral reflux, Abnormal salivary gla... |
ORPHA:2363 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism, Increased urinary glycerol, Adrenal insufficiency |
OMIM:307030 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased respons... |
OMIM:214800 |
Chromosome 13Q14 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple |
OMIM:613884 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Annular pancreas, Hydronephrosis |
ORPHA:210122 |
Bloom Syndrome |
|
Cryptorchidism, Azoospermia, Type II diabetes mellitus, Decreased fertility in females |
OMIM:210900 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Abnormal co... |
OMIM:610829 |
Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Simplified gyral pattern, ... |
OMIM:616835 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Pa... |
ORPHA:564 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased ... |
OMIM:188400 |
Specc1L-Related Hypertelorism Syndrome |
|
Cryptorchidism, Ectopic kidney, Female pseudohermaphroditism, Shawl scrotum |
ORPHA:1519 |
Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Hypoplasia of penis, Hypospadias, Epispadias, Cryptorchidism, Hypoplas... |
ORPHA:3107 |
Kbg Syndrome |
|
Epispadias, Cryptorchidism |
OMIM:148050 |
Mosaic Trisomy 20 |
|
Cryptorchidism, Abnormality of the kidney, Horseshoe kidney |
ORPHA:1724 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Hydronephrosis, Delayed puberty |
OMIM:614921 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter... |
ORPHA:438213 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Papillary cystadenoma... |
OMIM:180849 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus... |
OMIM:135900 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Hydronephrosis |
OMIM:251260 |
Meier-Gorlin Syndrome 1 |
|
Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, Shawl scrotum, Micropenis, Br... |
OMIM:224690 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret... |
ORPHA:857 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
X-Linked Intellectual Disability, Nascimento Type |
|
Vesicoureteral reflux, Cryptorchidism, Micropenis, Hypospadias |
ORPHA:163956 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Cryptorchidism, Labial hypertrophy, Neonatal insulin-dependent diabetes mellitus |
ORPHA:96191 |
Distal Deletion 3P |
|
Cryptorchidism |
ORPHA:1620 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia... |
OMIM:305600 |
Double Outlet Left Ventricle |
|
Cryptorchidism |
ORPHA:3427 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorc... |
ORPHA:1596 |
Roberts Syndrome |
|
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Clitoral hypertrophy |
ORPHA:3103 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Hydronephrosis |
OMIM:608779 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Arboleda-Tham Syndrome |
|
Bilateral cryptorchidism, Recurrent urinary tract infections, Hydronephrosis |
OMIM:616268 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, Horseshoe kidney, Decreased testicular ... |
OMIM:305000 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Cryptorchidism, Rectoperineal fistula |
OMIM:618748 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Cryptorchidism, Rectovagi... |
OMIM:243800 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Bicornuate u... |
OMIM:265380 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Re... |
ORPHA:2052 |
Coffin-Siris Syndrome |
|
Hypospadias, Cryptorchidism, Simplified gyral pattern, Horseshoe kidney, Papillary thyroid carcinoma |
ORPHA:1465 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Cryptorchidism, Small scrotum, Hypospadias, Ureterocele |
OMIM:616734 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Cryptorchidism, Hypopituitarism, Periventricular nodular heterotopia |
OMIM:603671 |
Femoral-Facial Syndrome |
|
Renal agenesis, Maternal diabetes, Abnormal renal collecting system morphology, Cryptorchidism, H... |
OMIM:134780 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... |
ORPHA:861 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Abnormal fallopia... |
ORPHA:2556 |
Hajdu-Cheney Syndrome |
|
Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:268261 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Chordee, Hypospadias, Anterior pituitary hypoplasia |
OMIM:151050 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, H... |
ORPHA:2273 |
Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:619004 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, ... |
ORPHA:3455 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism |
OMIM:192430 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Cryptorchidism |
ORPHA:1101 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Adrenal hypoplasia, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr... |
ORPHA:353277 |
Monosomy 9P |
|
Ambiguous genitalia, Cryptorchidism, Ureteropelvic junction obstruction, Hypospadias |
ORPHA:261112 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism... |
OMIM:261540 |
Poland Syndrome |
|
Duplicated collecting system, Diabetes mellitus, Hypospadias, Renal hypoplasia/aplasia, Cryptorch... |
ORPHA:2911 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Bilateral renal age... |
OMIM:619194 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Epispadias, Cryptorchidism, Simplified gyral pattern, Unilateral ren... |
OMIM:615948 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydronephrosis |
OMIM:115150 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Native American Myopathy |
|
Cryptorchidism |
ORPHA:168572 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Abnormality of th... |
ORPHA:201 |
Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Hypospadias, Biliary hyperplasia, Abnormal circulating thyroi... |
OMIM:619991 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Micropenis |
OMIM:617330 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Osteoglophonic Dysplasia |
|
Cryptorchidism, Chordee, Hypospadias |
OMIM:166250 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
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Neurogenic bladder, Congenital hypothyroidism, Ureteropelvic junction obstruction, Polymicrogyria... |
OMIM:616973 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Noonan Syndrome 10 |
|
Cryptorchidism |
OMIM:616564 |
Otopalatodigital Syndrome, Type Ii |
|
Cryptorchidism, Hypospadias, Hydronephrosis |
OMIM:304120 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, P... |
ORPHA:261537 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Adrenal hypoplasia, Hypoplasia of the thymus, Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
3Mc Syndrome 1 |
|
Hydronephrosis, Supernumerary nipple |
OMIM:257920 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of renal pelvis, Pancr... |
OMIM:312870 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A... |
ORPHA:2152 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Campomelic Dysplasia |
|
Sex reversal, Hypospadias, Hydronephrosis |
OMIM:114290 |
Fraser Syndrome 1 |
|
Hypospadias, Abnormal cortical gyration, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplas... |
OMIM:219000 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Micropenis |
OMIM:609945 |
Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Barber-Say Syndrome |
|
Absent nipple, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, Hypoplastic ni... |
OMIM:209885 |
Congenital Myopathy 13 |
|
Cryptorchidism |
OMIM:255995 |
Leprechaunism |
|
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hyperinsuline... |
ORPHA:508 |
Mend Syndrome |
|
Cryptorchidism, Crossed fused renal ectopia |
OMIM:300960 |
Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Secondary hyperparathyr... |
ORPHA:2785 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
Holoprosencephaly 3 |
|
Central diabetes insipidus, Hydronephrosis |
OMIM:142945 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... |
ORPHA:79500 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... |
OMIM:107480 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Adrenal hypoplasia, Crypt... |
OMIM:249000 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Decreased serum insulin-like growth ... |
OMIM:301068 |
Xeroderma Pigmentosum |
|
Cryptorchidism, Aminoaciduria, Hypogonadism, Decreased testicular size |
ORPHA:910 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis |
OMIM:259775 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
Schneckenbecken Dysplasia |
|
Cryptorchidism |
ORPHA:3144 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Proteinuria |
OMIM:616682 |
Tibial Hemimelia |
|
Ambiguous genitalia, Cryptorchidism, Hypospadias |
ORPHA:93322 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, P... |
ORPHA:261552 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Aplasia/h... |
ORPHA:672 |
Okamoto Syndrome |
|
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... |
ORPHA:2729 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Abnormal parotid gland morphology |
OMIM:154500 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Cryptorchidism, Hypospadias, Decreased testicular size, Delayed puberty |
ORPHA:459070 |
C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ... |
ORPHA:1308 |
Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism |
OMIM:601321 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypogonadism, Vesicoureteral reflux... |
OMIM:309580 |
Noonan Syndrome 3 |
|
Cryptorchidism |
OMIM:609942 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Abnorm... |
ORPHA:116 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... |
OMIM:309000 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... |
ORPHA:3047 |
Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Hydronephrosis, Increased serum serotonin |
ORPHA:100078 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Polymicrogyria, Hydronephrosis, Renal duplication |
OMIM:267750 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Hydronephrosis |
OMIM:620330 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Cryptorchidism |
OMIM:620025 |
Noonan Syndrome 1 |
|
Hypogonadism, Cryptorchidism, Hypospadias, Male infertility |
OMIM:163950 |
Occipital Horn Syndrome |
|
Hydronephrosis, Bladder diverticulum, Ureteral obstruction |
OMIM:304150 |
Faundes-Banka Syndrome |
|
Cryptorchidism, Premature thelarche, Delayed puberty |
OMIM:619376 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
Carpenter Syndrome 2 |
|
Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Hypoplastic nipples, Shawl scrotu... |
OMIM:614976 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Omodysplasia 1 |
|
Cryptorchidism |
OMIM:258315 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Anterio... |
OMIM:607932 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Abnormal cortical gyration, Cyst of the ductus choledochus, Abnormal circulating... |
ORPHA:480880 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... |
OMIM:308205 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Abnormality of the kidney, Supernumerary nipple, Cryptorchidism |
OMIM:235730 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Moderate albuminuria, Renal tubular epithelial necrosis, Hema... |
ORPHA:95455 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidney, Bicornuate uter... |
OMIM:268300 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Dilatation of the renal pelvis, S... |
OMIM:619534 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia |
OMIM:309800 |
Viss Syndrome |
|
Hypothyroidism, Hydronephrosis |
OMIM:619472 |