Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... |
ORPHA:752 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism |
ORPHA:242 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... |
OMIM:264300 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
7P22.1 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:314034 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Abnormality of male external genitalia, Elevated circulating luteinizing hormone le... |
OMIM:400044 |
X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad... |
ORPHA:163976 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Testicular neoplasm, Aplasia/hypoplasia of... |
ORPHA:754 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased serum testosterone concentration, Cryptorchidism, Decreased testicular size, Hypogonadi... |
OMIM:300869 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Bifid Nose, Autosomal Dominant |
|
Cryptorchidism |
OMIM:109740 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Hypos... |
ORPHA:163971 |
Persistent Müllerian Duct Syndrome |
|
Male pseudohermaphroditism, Cryptorchidism |
ORPHA:2856 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... |
OMIM:619949 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
Pituicytoma |
|
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... |
ORPHA:251623 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:261534 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... |
OMIM:615542 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
Frasier Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... |
ORPHA:347 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Intellectual Developmental Disorder, X-Linked 2 |
|
High palate, Macroorchidism |
OMIM:300428 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:300068 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
High palate, Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensit... |
OMIM:308700 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Primary amenorrhea, Adrenal hyperplasia, Ambiguous genitalia, Adrenog... |
OMIM:202110 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... |
ORPHA:66628 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Unilateral cryptorchidism |
OMIM:618286 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypoplasia of penis, Micropenis, Hypogonadism |
ORPHA:85274 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Cleft palate |
ORPHA:1074 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:136680 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... |
OMIM:176400 |
Denys-Drash Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis |
ORPHA:220 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous genitalia |
OMIM:250790 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
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 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
N Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:2608 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the ovary, Decreased serum testosterone concent... |
ORPHA:432 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype |
OMIM:305700 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:619613 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism |
OMIM:309585 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Decreased serum testosterone concentration, A... |
ORPHA:325124 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
Currarino Syndrome |
|
Hypoplasia of penis, Bifid scrotum, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m... |
ORPHA:1552 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... |
ORPHA:90790 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Cryptorchidism, Microphallus, Micropenis |
OMIM:218450 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism |
ORPHA:1568 |
Gemignani Syndrome |
|
Hypoplasia of penis, Delayed puberty, Abnormal testis morphology |
ORPHA:2074 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Cleft palate, Male pseudohermaphroditism, Hypospadias, Cryptorchidism |
ORPHA:2075 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Breas... |
ORPHA:3044 |
X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85287 |
Polydactyly-Myopia Syndrome |
|
Cryptorchidism |
ORPHA:2917 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Periventricular Nodular Heterotopia 7 |
|
Cryptorchidism, Cleft palate |
OMIM:617201 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Ambiguous genitalia, male, Hypopla... |
ORPHA:753 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... |
ORPHA:2410 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Abnormality of the endocrine system, Ambiguous genitalia, male, Micropenis, Bifid scrotum, Crypto... |
OMIM:264600 |
Retinitis Pigmentosa 59 |
|
Cryptorchidism, Micropenis |
OMIM:613861 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Pancreatitis, Abnormal endocrine physiolo... |
ORPHA:562 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... |
OMIM:618187 |
Hao-Fountain Syndrome |
|
Cryptorchidism, Premature adrenarche, Micropenis |
OMIM:616863 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency, Hypogonadism |
ORPHA:261483 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Bowen-Conradi Syndrome |
|
Cryptorchidism |
ORPHA:1270 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... |
OMIM:201810 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Cleft palate, Primary amenorrhea, Decreased testicular size, C... |
OMIM:614880 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... |
ORPHA:2232 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Male pseudohermaphroditism |
OMIM:600122 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Cleft palate, Ele... |
OMIM:305400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... |
ORPHA:91349 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Megalencephaly |
|
Long penis, Macroorchidism |
ORPHA:2477 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis |
OMIM:300982 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... |
ORPHA:85327 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Hypogonadotropic hypo... |
OMIM:275400 |
Gordon Syndrome |
|
High palate, Cryptorchidism, Cleft palate |
ORPHA:376 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism |
ORPHA:1918 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... |
OMIM:619938 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... |
OMIM:278850 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... |
ORPHA:206484 |
Ane Syndrome |
|
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... |
ORPHA:157954 |
Chromosome 18P Deletion Syndrome |
|
High palate, Micropenis, Gonadal dysgenesis, Decreased testicular size, Cryptorchidism |
OMIM:146390 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism |
ORPHA:2022 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Congenital adrenal hypoplasia, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Image Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Hypospadias, Hypogonadism |
ORPHA:85173 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism |
OMIM:616816 |
Tetralogy Of Fallot |
|
Cryptorchidism |
ORPHA:3303 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... |
OMIM:194080 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size |
OMIM:614858 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus |
OMIM:615703 |
3Q13 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:1621 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, External genital hypoplasia, Hypogonadism |
OMIM:615982 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism |
ORPHA:393 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate |
OMIM:612370 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... |
OMIM:618014 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Cryptorchidism |
OMIM:616681 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
High palate, Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea... |
OMIM:612702 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism |
ORPHA:408 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:610628 |
Perrault Syndrome 1 |
|
High palate, Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233400 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism |
ORPHA:2489 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal ge... |
ORPHA:1772 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity |
OMIM:145295 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism |
OMIM:201100 |
Kallmann Syndrome With Spastic Paraplegia |
|
High palate, Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonad... |
OMIM:308750 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
Mmep Syndrome |
|
Cryptorchidism |
ORPHA:3434 |
8p23.1 deletion syndrome |
|
Cryptorchidism |
DECIPHER:39 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm, Hypohidrosis |
OMIM:308100 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Micropenis, Male pseudohermaphroditism, Hypospadias, Submucous cleft soft palate, Shawl scrotum, ... |
ORPHA:2282 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Cryptorchidism |
ORPHA:1174 |
Central Precocious Puberty |
|
Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty, Hypo... |
ORPHA:759 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Secondary... |
ORPHA:243 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:619310 |
Mehmo Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Micropenis, Diabetes mellitus, Cryptorchidism |
ORPHA:85282 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Male pseudohermaphroditism |
ORPHA:1422 |
Adenohypophysitis |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... |
ORPHA:95512 |
Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
Intellectual Developmental Disorder, X-Linked 93 |
|
Cryptorchidism |
OMIM:300659 |
Gabriele-De Vries Syndrome |
|
Cryptorchidism |
OMIM:617557 |
Panhypophysitis |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... |
ORPHA:95513 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, External genital hypoplasia, Hypogonadism |
ORPHA:363741 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Macroglossia, Male pseudohermaphroditism, Abnormality of the male genitalia,... |
ORPHA:847 |
N Syndrome |
|
Hypospadias, Cryptorchidism |
OMIM:310465 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... |
OMIM:241080 |
Nivelon-Nivelon-Mabille Syndrome |
|
Male pseudohermaphroditism |
OMIM:600092 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism |
OMIM:250951 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
Isolated Hemihyperplasia |
|
Cryptorchidism |
ORPHA:2128 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia |
OMIM:602390 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Dysmyelination With Jaundice |
|
Cryptorchidism, Hypoplasia of penis |
OMIM:224250 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... |
OMIM:609441 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Macroorchidism |
OMIM:300602 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Cryptorchidism, Hypospadias |
OMIM:616489 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
ORPHA:3459 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:250994 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... |
OMIM:618723 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Fetal Akinesia Deformation Sequence 4 |
|
High palate, Cryptorchidism |
OMIM:618393 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency |
OMIM:311360 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Ambiguous genitalia, female, Decreased ci... |
ORPHA:90795 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Aromatase Deficiency |
|
Female infertility, Type II diabetes mellitus, Ambiguous genitalia, female, Hypergonadotropic hyp... |
ORPHA:91 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... |
ORPHA:95699 |
Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Cryptorchidism |
OMIM:101805 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Oligomenorrhe... |
OMIM:615300 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism |
OMIM:601794 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Cryptorchidism, Anal atresia, Hypoplasia of penis |
ORPHA:1381 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Ovarian cyst, Female pseudohermaphroditism |
OMIM:613546 |
Atkin-Flaitz Syndrome |
|
Exaggerated median tongue furrow, Macroorchidism |
OMIM:300431 |
46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Increased serum testosterone level, Ambiguous genitalia |
OMIM:618901 |
Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... |
ORPHA:457083 |
Alazami-Yuan Syndrome |
|
High palate, Cryptorchidism |
OMIM:617126 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism |
OMIM:618298 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Cryptorchidism, Hypoplastic male external genitalia |
OMIM:618823 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2183 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Decreased fertility in femal... |
ORPHA:1916 |
Branchial Arch Syndrome, X-Linked |
|
High palate, Cryptorchidism, High, narrow palate |
OMIM:301950 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... |
ORPHA:3085 |
Chromosome 1P35 Deletion Syndrome |
|
High palate, Cryptorchidism |
OMIM:617930 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... |
OMIM:616185 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Lujan-Fryns Syndrome |
|
High palate, Macroorchidism |
ORPHA:776 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
Sternum, Premature Obliteration Of Sutures Of |
|
Cryptorchidism |
OMIM:184800 |
Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Micropenis |
OMIM:164745 |
Non-Distal Trisomy 10Q |
|
High palate, Cryptorchidism |
ORPHA:1695 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... |
ORPHA:314478 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... |
ORPHA:2959 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hypohidrosis |
ORPHA:461 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Primary amenorrhea, Hypothyr... |
ORPHA:95496 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Decreased fertility, Abnormal testis morphology, Hypogonadism |
ORPHA:2233 |
Autosomal Recessive Amelia |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:1027 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
High palate, Male hypogonadism, Macroorchidism |
OMIM:300055 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Cryptorchidism, External genital hypoplasia |
OMIM:612947 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Micropenis |
OMIM:612626 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, male, Partial development of the penile shaft, Testicular dysgenesis, Crypto... |
OMIM:608800 |
Widow'S Peak Syndrome |
|
Cryptorchidism, Shawl scrotum |
OMIM:314570 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Hypospadias, Cryptorchidism, Micropenis |
OMIM:301830 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Male pseudohermaphroditism, Cleft palate |
ORPHA:140 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Cryptorchidism |
OMIM:618766 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism |
OMIM:613730 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Cleft palate, Congenital adrenal hyperplasi... |
ORPHA:96181 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism |
OMIM:618512 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
High palate, Blind vagina, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, ... |
ORPHA:456328 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, High palate, Macroorchidism |
ORPHA:284180 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... |
OMIM:202010 |
Fetal Akinesia Deformation Sequence 2 |
|
High palate, Cryptorchidism, Cleft palate |
OMIM:618388 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Micropenis, Delayed puberty, Hypoplasia of the prostate |
OMIM:301900 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft palate, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:244200 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism |
ORPHA:2958 |
Stt3A-Cdg |
|
Cryptorchidism, Small scrotum, Micropenis |
ORPHA:370921 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:261102 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
Intellectual Disability, Wolff Type |
|
Hypospadias, Cryptorchidism, Abnormal intestine morphology |
ORPHA:3080 |
Proximal Xq28 Duplication Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:1762 |
Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Abnormality of the endocrine system, Cleft palate, Bifid scrotum, Micropenis, Ureth... |
ORPHA:95706 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Meckel Syndrome |
|
Urethral atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Male pseud... |
ORPHA:564 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Hypospadias, Bilateral cryptorchidism, Micropenis |
OMIM:618840 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Adrenal hypoplasi... |
OMIM:614732 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Cryptorchidism, Micropenis |
OMIM:619180 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Cryptorchidism, High, narrow palate |
OMIM:273390 |
Mosaic Trisomy 14 |
|
High palate, Ectopic anus, Hypoplasia of penis, Cleft palate, Hypospadias, Cryptorchidism |
ORPHA:1703 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
ORPHA:361 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Testicular seminoma, Hypohidrosis, Hypogonadism, Cryptorchidism |
ORPHA:281090 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism |
OMIM:617564 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Bifid scrotum, Micropenis, Perineal hypospadias,... |
ORPHA:199310 |
Crandall Syndrome |
|
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism |
ORPHA:202 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Testicular atrophy |
OMIM:601163 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Premature pubarche, Cryptorchidism |
ORPHA:457205 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Hypospadias, Cryptorchidism, Decreased testicular size |
OMIM:300997 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Cryptorchidism, Hypothalamic hamartoma |
OMIM:619908 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism, Cryptorchidism |
OMIM:613970 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism |
OMIM:210700 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
Stt3B-Cdg |
|
Cryptorchidism, Small scrotum, Micropenis |
ORPHA:370924 |
Culler-Jones Syndrome |
|
Cleft palate, Micropenis, Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchid... |
OMIM:615849 |
Chromosome 3Q13.31 Deletion Syndrome |
|
High palate, High, narrow palate, Micropenis, Shawl scrotum, Decreased testicular size, Cryptorch... |
OMIM:615433 |
Prieto Syndrome |
|
Cryptorchidism |
OMIM:309610 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Midshaft hypospadias, Anterior hypopituitarism, Cryptorchidism |
ORPHA:2863 |
Trisomy 4P |
|
Hypospadias, Cryptorchidism |
ORPHA:1738 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Small scrotum, Micropenis |
OMIM:615597 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Micropenis |
OMIM:618815 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Cleft palate |
OMIM:601349 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... |
ORPHA:261519 |
Laurence-Moon Syndrome |
|
Displacement of the urethral meatus, Cryptorchidism, Type II diabetes mellitus, Hypoplasia of penis |
ORPHA:2377 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency |
ORPHA:101006 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:168593 |
Autosomal Dominant Omodysplasia |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Bifid scrotum |
ORPHA:93328 |
Temple Syndrome |
|
High palate, Cleft palate, Maturity-onset diabetes of the young, Bifid uvula, Decreased testicula... |
OMIM:616222 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:280679 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Cryptorchidism |
OMIM:616910 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Cryptorchidism |
ORPHA:67044 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... |
ORPHA:785 |
Urofacial Syndrome 1 |
|
Urethral obstruction, Cryptorchidism, Urethral valve |
OMIM:236730 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Cryptorchidism |
OMIM:618822 |
Puerto Rican Infant Hypotonia Syndrome |
|
High palate, Cryptorchidism, Narrow palate |
OMIM:600096 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:2772 |
Lig4 Syndrome |
|
Amenorrhea, Cryptorchidism, Hypothyroidism, Micropenis |
OMIM:606593 |
Imagawa-Matsumoto Syndrome |
|
Cryptorchidism, Anteriorly placed anus |
OMIM:618786 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Anal atresia, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Clitoral ... |
OMIM:618419 |
Meningioma |
|
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... |
ORPHA:2495 |
Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism |
ORPHA:638 |
Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Cryptorchidism, Decreased testicular size |
ORPHA:85279 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Anal atresia, Cryptorchidism, Precocious puberty, Supernumerary nipple |
OMIM:619243 |
Li-Campeau Syndrome |
|
Hypothyroidism, Cryptorchidism, Micropenis |
OMIM:619189 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Hypoplasia of the uterus, Cleft p... |
ORPHA:247768 |
Pituitary Gigantism |
|
Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact... |
ORPHA:99725 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft palate, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cry... |
OMIM:147950 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
High palate, Cryptorchidism |
ORPHA:178148 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Macroglossia... |
ORPHA:90674 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Hypogonadotropic hypogonadism, Cryptorchidism, Furrowed tongue |
ORPHA:1387 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Hypospadias, Bilateral cleft lip and palate, Ankyloglossia, Macroorchidism |
OMIM:618874 |
Acrocallosal Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:36 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism |
ORPHA:404451 |
48,Xyyy Syndrome |
|
Azoospermia, Male hypogonadism, Primary gonadal insufficiency |
ORPHA:99329 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Hamartoma of tongue, Cryptorchidism |
ORPHA:1338 |
X-Linked Intellectual Disability, Seemanova Type |
|
High palate, Cryptorchidism, Hypogonadism |
ORPHA:85323 |
Boomerang Dysplasia |
|
Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis |
OMIM:618504 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... |
OMIM:616425 |
Fanconi Anemia, Complementation Group O |
|
Anal atresia, Cryptorchidism, Rectal atresia, External genital hypoplasia |
OMIM:613390 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... |
OMIM:619761 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of the anus, Abnormal penis morphology, Male pseudohermaphroditism, Hypospadias, Abno... |
ORPHA:2556 |
X-Linked Intellectual Disability, Snyder Type |
|
High palate, Testicular atrophy, Cleft palate, Hypospadias, Abnormality of the Leydig cells, Cryp... |
ORPHA:3063 |
Ciliary Dyskinesia, Primary, 40 |
|
Azoospermia, Infertility, Absent outer dynein arms |
OMIM:618300 |
Myopathy, Congenital, Bailey-Bloch |
|
High palate, Cryptorchidism, Cleft palate |
OMIM:255995 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism |
OMIM:615633 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... |
ORPHA:90794 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Cryptorchidism, Bifid uvula, Cleft palate |
OMIM:619110 |
Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism, Intestinal duplication |
ORPHA:1756 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism |
OMIM:224410 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:607080 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Type I diabetes mellitus |
ORPHA:1192 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Macroorchidism |
ORPHA:324410 |
Wt Limb-Blood Syndrome |
|
Cryptorchidism |
OMIM:194350 |
Meacham Syndrome |
|
Male pseudohermaphroditism, Blind vagina, Septate vagina, Bicornuate uterus |
OMIM:608978 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Infertility, Diabetes insipidus |
ORPHA:1445 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Cryptorchidism, Decreased testicular size |
OMIM:610198 |
Distal Trisomy 15Q |
|
High palate, Anal atresia, Cryptorchidism, Abnormality of female external genitalia |
ORPHA:1707 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Cleft palate |
OMIM:164180 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, High, narrow palate, Hypoplasia of penis, Cryptor... |
ORPHA:2849 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
High palate, Cryptorchidism |
OMIM:618578 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:619595 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow... |
ORPHA:91354 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Shawl scrotum |
ORPHA:2256 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Decreased serum testosterone concentration, Hypospadias, Absence of labia majora, Absent scrotum,... |
ORPHA:495875 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism |
ORPHA:466926 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Perianal abscess, Micropenis |
OMIM:614684 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... |
OMIM:300845 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Cryptorchidism, Cleft palate, Coronal hypospadias |
ORPHA:921 |
Prolactinoma |
|
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... |
ORPHA:2965 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Bilateral cryptorchidism, Pyloric stenosis |
ORPHA:314575 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Malabsorption, Hypoplasia of penis, Hypohidrosis, Ambiguous ge... |
ORPHA:452 |
Au-Kline Syndrome |
|
High palate, Cryptorchidism, Cleft palate |
OMIM:616580 |
Distal Monosomy 10P |
|
Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate, Polycystic ovaries, Cryptorchidism |
ORPHA:1580 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cryptorchidism, Abnormality of the tongue muscle, Micropenis |
ORPHA:370968 |
Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
Aniridia-Absent Patella Syndrome |
|
Cryptorchidism |
ORPHA:1069 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Delayed puberty |
OMIM:180870 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Cryptorchidism |
OMIM:611890 |
Chung-Jansen Syndrome |
|
High palate, Cryptorchidism |
OMIM:617991 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism |
OMIM:618067 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Cryptorchidism, Micropenis |
OMIM:610680 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
Seckel Syndrome 5 |
|
High palate, Cryptorchidism, Clitoral hypertrophy |
OMIM:613823 |
Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus,... |
OMIM:602668 |
X-Linked Intellectual Disability, Pai Type |
|
Hydrocele testis, Cryptorchidism |
ORPHA:85322 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Oral leukoplakia |
OMIM:613987 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cryptorchidism, External genital hypoplasia, Decreased testicular size |
ORPHA:1867 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Absent nipple, Cryptorchidism, Male urethral meatus stenosis, Hypoplastic nipples |
OMIM:616001 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Cleft palate, Micropenis, Hypogonadotropic hypogonadism, Primar... |
ORPHA:478 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Cryptorchidism, Adrenocortical hypoplasia |
OMIM:307030 |
Filippi Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
OMIM:272440 |
Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism |
ORPHA:3306 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... |
ORPHA:10 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru... |
OMIM:604168 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism |
OMIM:618958 |
Ohdo Syndrome, X-Linked |
|
Cryptorchidism, Small scrotum |
OMIM:300895 |
Snijders Blok-Fisher Syndrome |
|
Cryptorchidism |
OMIM:618604 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:618917 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Cleft palate |
ORPHA:1166 |
Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Ambiguous genitalia, male, Bifid scrotum, Micropenis, Hypospadias, Unilateral crypto... |
OMIM:300219 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Cryptorchidism, Hyperhidrosis |
ORPHA:2617 |
Mcdonough Syndrome |
|
Cryptorchidism |
ORPHA:2471 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
Warburg Micro Syndrome 1 |
|
Cryptorchidism, External genital hypoplasia |
OMIM:600118 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... |
OMIM:174800 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Decreased testicular size, Hypogonadism, Cryptorchidism, Small scrotum |
ORPHA:127 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Abnorm... |
ORPHA:2973 |
Rahman Syndrome |
|
Cryptorchidism |
OMIM:617537 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Cleft palate |
OMIM:615502 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Tsh-Secreting Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Increased circulating pro... |
ORPHA:91347 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypoplastic female external genitalia, Cryptorchidism |
OMIM:618577 |
Heart-Hand Syndrome Type 2 |
|
Cryptorchidism |
ORPHA:1350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|