Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... |
OMIM:616030 |
Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... |
OMIM:202150 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... |
OMIM:614839 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te... |
OMIM:614897 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... |
ORPHA:168563 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Unilateral renal agenesis, Sparse pubic hair, Decreased serum testosterone concent... |
OMIM:308700 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficie... |
OMIM:308750 |
Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level |
OMIM:619009 |
Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... |
OMIM:618117 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... |
ORPHA:755 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentra... |
OMIM:300869 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... |
OMIM:620651 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Sparse axillary hair, Decreased ... |
ORPHA:52901 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
X-Linked Intellectual Disability, Van Esch Type |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... |
ORPHA:163976 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... |
ORPHA:453533 |
Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
X-Linked Intellectual Disability, Cilliers Type |
|
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... |
ORPHA:163971 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... |
OMIM:618086 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
49,Xxxyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:261534 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... |
ORPHA:432 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Abnorma... |
OMIM:620103 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... |
ORPHA:90796 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
46,Xy Sex Reversal 3 |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... |
OMIM:619761 |
Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... |
OMIM:615300 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis |
ORPHA:85274 |
Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... |
OMIM:615363 |
Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogon... |
OMIM:614840 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... |
OMIM:612885 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:99330 |
Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
Premature Ovarian Failure 22 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... |
OMIM:620548 |
Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... |
ORPHA:2232 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... |
ORPHA:247768 |
Deafness, Congenital, With Total Albinism |
|
Hypogonadism |
OMIM:220900 |
Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Microphallus, Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Cryptorchidism, Te... |
OMIM:615542 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea |
OMIM:300604 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... |
OMIM:618096 |
Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Cryptorchidism |
OMIM:219050 |
7P22.1 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:314034 |
Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... |
ORPHA:785 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Micropenis, Decreased serum... |
OMIM:614962 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
Partial Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... |
ORPHA:90797 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, External genital hypoplasia, Micropenis, Obesity |
OMIM:615983 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... |
OMIM:614324 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia |
ORPHA:397685 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Decreased serum estradiol, Nephrotic syndrome, Streak ovary, ... |
ORPHA:347 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Endometriosis, Dysmenorrhea |
OMIM:131200 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... |
ORPHA:1772 |
Isolated Growth Hormone Deficiency, Type Ib |
|
Decreased response to growth hormone stimulation test, Micropenis, Reduced circulating growth hor... |
OMIM:612781 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency |
ORPHA:101006 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Sparse body hair, Hypogonadism, Decreased testicular size, Cryptorchidism, Tru... |
ORPHA:261483 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis |
OMIM:607080 |
46,Xy Sex Reversal 5 |
|
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... |
OMIM:613080 |
Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus |
OMIM:605231 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Thick eyebrow, Cryptorchidism |
OMIM:309585 |
Spastic Paraparesis And Deafness |
|
Hypogonadism |
OMIM:312910 |
46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonadal dysgenesi... |
ORPHA:243 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Renal cyst, Obesity, Renal insufficiency |
OMIM:615987 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Ane Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... |
OMIM:619938 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... |
OMIM:618723 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... |
OMIM:194072 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... |
OMIM:305400 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
OMIM:619146 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea |
OMIM:614851 |
Hao-Fountain Syndrome |
|
Premature adrenarche, Micropenis, Cryptorchidism |
OMIM:616863 |
46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... |
OMIM:154230 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... |
OMIM:201100 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidn... |
OMIM:601076 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Spar... |
OMIM:146110 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... |
ORPHA:753 |
46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the fallopian tube, Increased circulating dehydroepiandrost... |
OMIM:158330 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Decreased fertility, Low posterior hairline, Abnormal hair quantity, Abnor... |
ORPHA:2233 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... |
ORPHA:314478 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:1014 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Renal cyst |
OMIM:615982 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Absence of pubertal development, Obesity, Cryptorchidism, Hypogonadotr... |
OMIM:610628 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... |
ORPHA:3085 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Adrenal hypoplasia |
OMIM:619151 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism |
ORPHA:2815 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Premature Ovarian Failure 11 |
|
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... |
OMIM:264600 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Hypogonadism |
ORPHA:1383 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... |
ORPHA:3044 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism, Obesity |
ORPHA:3055 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Tall stature, Obesity, Female ... |
ORPHA:91 |
Gordon Holmes Syndrome |
|
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... |
OMIM:212840 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Small scrotum, Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Abnormality of... |
ORPHA:2234 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:618014 |
Ovarian Dysgenesis 1 |
|
Primary amenorrhea, Increased circulating gonadotropin level, Gonadal dysgenesis |
OMIM:233300 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... |
ORPHA:2410 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Cleft palate |
ORPHA:1074 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Alopecia, Small for gestational age, Insulin-resistant diabetes mellit... |
ORPHA:2959 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:609441 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Secondary ameno... |
OMIM:301033 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... |
ORPHA:95619 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... |
ORPHA:226307 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal insufficiency, O... |
OMIM:615993 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... |
OMIM:300511 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility |
OMIM:604931 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... |
ORPHA:3411 |
Mehmo Syndrome |
|
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... |
ORPHA:85282 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
N Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:2608 |
Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... |
OMIM:250790 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren... |
OMIM:615989 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98754 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... |
ORPHA:90795 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia |
OMIM:615703 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... |
ORPHA:280356 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98793 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... |
OMIM:275400 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177901 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
Meningioma |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Urinary incontinence, Hypothalami... |
ORPHA:2495 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse axillary hair, Elevated... |
OMIM:300068 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hydronephrosis, Adrenal hypoplasia, Hypospadias |
ORPHA:85173 |
Polyembryoma |
|
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... |
ORPHA:180229 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism |
ORPHA:363741 |
Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615269 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Thick eyebrow, Cryptorchidism, Truncal obesity |
ORPHA:3459 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias |
ORPHA:141333 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, High palate, Increased circulating gonado... |
OMIM:110100 |
Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, Pancreatic hyp... |
OMIM:137920 |
Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi... |
ORPHA:752 |
Prader-Willi Syndrome |
|
Precocious puberty, Small scrotum, Premature adrenarche, Small pituitary gland, Decreased circula... |
ORPHA:739 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... |
OMIM:300200 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Obesity |
OMIM:615981 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Proteinuria, Bicornuate uterus, Primary amenorrhea |
OMIM:191830 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
Bowen-Conradi Syndrome |
|
Cryptorchidism |
ORPHA:1270 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... |
ORPHA:3363 |
47,Xyy Syndrome |
|
Varicocele, Tall stature, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligoz... |
ORPHA:8 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... |
OMIM:615962 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism |
ORPHA:1568 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Primary amenorrhea, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size |
OMIM:614858 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Hirs... |
ORPHA:2795 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
Placental Site Trophoblastic Tumor |
|
Amenorrhea, Metrorrhagia |
ORPHA:99928 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Obesity, Cryptorchidism |
OMIM:601794 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Renal salt wasting, Abnormal cir... |
ORPHA:90794 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity, Hypospadias |
OMIM:615985 |
Meckel Syndrome 12 |
|
Bifid uvula, Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus, Ureteral hypoplasia |
OMIM:616258 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Hypopigmentation of hair |
ORPHA:177910 |
Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Brittle h... |
ORPHA:202 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia |
OMIM:617914 |
Polydactyly-Myopia Syndrome |
|
Cryptorchidism |
ORPHA:2917 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis |
OMIM:301900 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Hirsutism, Abdominal ... |
OMIM:209900 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Obesity, Low posterior hairline, Sparse facial hair, Absent facial hair, Abnormality... |
ORPHA:2183 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... |
OMIM:614736 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Anterior hypopituitarism, Cryptorchidism |
ORPHA:2022 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism |
ORPHA:408 |
Gestational Choriocarcinoma |
|
Metrorrhagia |
ORPHA:99926 |
X-Linked Intellectual Disability, Siderius Type |
|
Decreased testicular size, Cryptorchidism |
ORPHA:85287 |
Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:619310 |
Perrault Syndrome 5 |
|
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis |
OMIM:616138 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty,... |
OMIM:615866 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Kallmann Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, H... |
ORPHA:478 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration, Urinary urgency |
OMIM:609195 |
Mehmo Syndrome |
|
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Delayed pubert... |
OMIM:300148 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615266 |
Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Cryptorchidism, Renal insufficiency, Displacement of the uret... |
ORPHA:2377 |
Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst |
OMIM:268650 |
3Q13 Microdeletion Syndrome |
|
Hypoplasia of penis, Cryptorchidism |
ORPHA:1621 |
Ovarian Dysgenesis 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... |
OMIM:618187 |
Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:600955 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate |
OMIM:612370 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... |
OMIM:612702 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hy... |
OMIM:618419 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
Gordon Syndrome |
|
High palate, Cryptorchidism, Cleft palate |
ORPHA:376 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... |
OMIM:119500 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... |
ORPHA:320391 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... |
OMIM:614662 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... |
OMIM:266810 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:79085 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Hypogonadism, High palate |
ORPHA:3216 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, High palate |
ORPHA:2528 |
Non-Syndromic Posterior Hypospadias |
|
Urethral diverticulum, Bifid scrotum, Androgen insufficiency, Cryptorchidism, Displacement of the... |
ORPHA:95706 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Ziegler-Huang Syndrome |
|
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... |
OMIM:620501 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Proteinuria, Hematuria, Hirsutism, Membranoproliferative glomerulonephritis, ... |
OMIM:608709 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Absent s... |
ORPHA:495875 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe... |
ORPHA:254516 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism |
ORPHA:1918 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Hypogonadism |
OMIM:615768 |
Weiss-Kruszka Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism |
ORPHA:502430 |
Classic Galactosemia |
|
Cryptorchidism, Decreased fertility in females, Decreased serum insulin-like growth factor 1, Del... |
ORPHA:79239 |
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Sparse hair, Secondary amenorrhea, Hyper... |
OMIM:268020 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:435651 |
Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Hydron... |
OMIM:615996 |
Lessel-Kubisch Syndrome |
|
Hypogonadism, Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Abnormal circulating androgen level, Increased circulating ACTH level, Abnormal female external g... |
ORPHA:90790 |
Tetralogy Of Fallot |
|
Cryptorchidism |
ORPHA:3303 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia |
OMIM:613571 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... |
ORPHA:786 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Ovotestis, Chordee, Anal atresia, ... |
OMIM:309801 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ... |
ORPHA:95496 |
Narcolepsy Type 1 |
|
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Nocturia |
ORPHA:2073 |
Wagr Syndrome |
|
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Hemochromatosis, Type 1 |
|
Impotence, Alopecia, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, ... |
OMIM:235200 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... |
ORPHA:456328 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... |
ORPHA:91354 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism |
ORPHA:85283 |
Whim Syndrome 1 |
|
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia |
OMIM:193670 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... |
OMIM:264300 |
Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux,... |
OMIM:617805 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... |
ORPHA:398079 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:250994 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... |
ORPHA:457083 |
Morm Syndrome |
|
Micropenis, Truncal obesity |
ORPHA:75858 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism, Obesity |
OMIM:300238 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:88637 |
Premature Ovarian Failure 12 |
|
Primary amenorrhea |
OMIM:616947 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... |
OMIM:146255 |
Moynahan Syndrome |
|
Hypogonadism |
ORPHA:2574 |
Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge... |
ORPHA:528 |
Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypoplasia of the uterus, Bic... |
OMIM:601186 |
Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... |
ORPHA:562 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614880 |
Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... |
OMIM:244200 |
Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... |
OMIM:616222 |
48,Xxyy Syndrome |
|
Decreased testicular size, Azoospermia, Tall stature, Type II diabetes mellitus, Cryptorchidism, ... |
ORPHA:10 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... |
OMIM:614963 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Abnormality of the hypothalamus-pituitary axis, Decreased body weight |
ORPHA:1672 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Cryptorchidism |
OMIM:616681 |
Urban-Rogers-Meyer Syndrome |
|
Hypogonadism, Abnormality of the ureter, Obesity, Cryptorchidism, Hypoplasia of penis |
ORPHA:3409 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
Robinow Syndrome |
|
Webbed penis, Small scrotum, Multicystic kidney dysplasia, High anterior hairline, Decreased seru... |
ORPHA:97360 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Meacham Syndrome |
|
Abnormal vagina morphology, Hydrometrocolpos, Horseshoe kidney, Crossed fused renal ectopia, Cryp... |
ORPHA:3097 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Cryptorchidism, Hydroneph... |
ORPHA:1655 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... |
OMIM:102200 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Type II diabetes ... |
ORPHA:100 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Hypogonadism, Abnormal stomach morphology, Renal insufficiency, Crypto... |
ORPHA:281090 |
Megalencephaly |
|
Macroorchidism, Long penis, Truncal obesity |
ORPHA:2477 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism |
ORPHA:2489 |
Trisomy 5P |
|
Hypoplasia of penis, Obesity |
ORPHA:1742 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Absence of pubertal development |
OMIM:615267 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233400 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries |
ORPHA:79084 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Borjeson-Forssman-Lehmann Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Thick eyebrow, Cryptorchidism, Truncal ob... |
ORPHA:127 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism |
OMIM:160900 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... |
ORPHA:435660 |
N Syndrome |
|
Hypospadias, Cryptorchidism |
OMIM:310465 |
Perlman Syndrome |
|
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hypoplasia o... |
ORPHA:2849 |
Mmep Syndrome |
|
Cryptorchidism |
ORPHA:3434 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Cryptorchidism |
ORPHA:1174 |
Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... |
ORPHA:99725 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Micropenis, Bilateral cryptorchidism |
OMIM:300982 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cryptorchidism, Premature pubarche |
ORPHA:457205 |
8p23.1 deletion syndrome |
|
Cryptorchidism |
DECIPHER:39 |
Cornelia De Lange Syndrome 5 |
|
Highly arched eyebrow, Hypogonadism, Decreased testicular size, Long eyelashes, Cryptorchidism, L... |
OMIM:300882 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Type I diabetes mellitus, Cryptorchidism, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
OMIM:604367 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hyperi... |
OMIM:262190 |
Autoimmune Polyendocrinopathy Type 2 |
|
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... |
ORPHA:3143 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Bicornuate uterus, Cryptorchidism, Cleft palate |
OMIM:615524 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Cleft palate, Decreased testicular size |
OMIM:614838 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Anal atresia, Hypospadias, Cryptorchidism |
ORPHA:1381 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... |
ORPHA:325345 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Abnormality of the uterus, Decrease... |
ORPHA:2970 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Bicornuate uterus, Cleft palate |
OMIM:258320 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Hydronephrosis, Vaginal... |
OMIM:236700 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Congenital hypothyroidism, Obesity, Cryptorchidism, Red hair, Hypospadias, Diabetes me... |
OMIM:614613 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Delayed puberty |
OMIM:615270 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Nail dystrophy, Hypogonadism |
OMIM:618165 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... |
ORPHA:96181 |
Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis |
OMIM:615238 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
OMIM:617872 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Microphallus, Abnormal scrotum morphology, Cryptorchidism, Dysmenorrhea, Hypothyro... |
ORPHA:397590 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas |
ORPHA:145 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased serum estradiol, Decreased testicular size, Hypogonadotropic hypogonadism, Primary amen... |
OMIM:604168 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Hypogonadism |
OMIM:251240 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell... |
OMIM:601820 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... |
ORPHA:2237 |
Precocious Puberty, Central, 1 |
|
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... |
OMIM:176400 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypercalciuria, Adrenal hy... |
OMIM:614732 |
Hjv Or Hamp-Related Hemochromatosis |
|
Hypogonadism, Impotence, Abnormality of endocrine pancreas physiology, Diabetes mellitus |
ORPHA:79230 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Decreased testicular size, Cryptorchidism, Delayed puberty, Abdominal obesity, Micr... |
OMIM:300354 |
Duplication Of Urethra |
|
Urinary incontinence, Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Anuria, Dysuria, Rec... |
ORPHA:237 |
3-Methylglutaconic Aciduria, Type Iv |
|
3-Methylglutaric aciduria, Cryptorchidism |
OMIM:250951 |
Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Multicystic kidney dysplasia, Cryptorchidism |
ORPHA:3301 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight, Cryptorchidism, Synophrys |
ORPHA:589905 |
Mosaic Trisomy 14 |
|
Cryptorchidism, Ectopic anus, High palate, Hypoplasia of penis, Hypospadias, Cleft palate |
ORPHA:1703 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k... |
OMIM:136680 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Hypoplastic male external genitalia, Cryptorchidism |
OMIM:618823 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... |
OMIM:616425 |
Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism |
OMIM:618298 |
46,Xx Sex Reversal 1 |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Azoospermia, True hermaphro... |
OMIM:400045 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Microphallus, Delayed puberty, Abdominal obesity, Sparse hair, Anterior hypopituitarism |
ORPHA:631 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Micropenis, Hypospadias, Cryptorchidism |
OMIM:612626 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism |
OMIM:608540 |
Hemochromatosis, Type 2B |
|
Hypogonadism, Secondary amenorrhea |
OMIM:613313 |
Li-Campeau Syndrome |
|
Micropenis, Hypothyroidism, Cryptorchidism |
OMIM:619189 |
Schaaf-Yang Syndrome |
|
Hypogonadism, Failure to thrive in infancy, Obesity, Thick eyebrow, Cryptorchidism, Micropenis |
OMIM:615547 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Congenital meg... |
ORPHA:617 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Uterus didelphys, Cryptorchidism |
ORPHA:1756 |
Alazami-Yuan Syndrome |
|
High palate, Cryptorchidism |
OMIM:617126 |
Björnstad Syndrome |
|
Hypogonadism |
ORPHA:123 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Obesity, Cryptorchidism |
OMIM:615633 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Hypogonadotropic hyp... |
OMIM:616113 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, Truncal obesit... |
ORPHA:96184 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm |
OMIM:308100 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Abnormali... |
ORPHA:1173 |
Isolated Hemihyperplasia |
|
Cryptorchidism |
ORPHA:2128 |
Cednik Syndrome |
|
Hypogonadism, Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
Intellectual Disability, Wolff Type |
|
Abnormal intestine morphology, Hypospadias, Cryptorchidism |
ORPHA:3080 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increa... |
ORPHA:398069 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Delayed puberty, Cryptorchidism |
ORPHA:486815 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism, Cryptorchidism |
OMIM:613970 |
Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... |
ORPHA:91351 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal morphology of female internal genitalia |
ORPHA:2141 |
Non-Distal Duplication 10Q |
|
High palate, Cryptorchidism |
ORPHA:1695 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, High palate, Furrowed tongue, Cryptorchidism |
ORPHA:1387 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... |
OMIM:615849 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Bilateral cryptorchidism |
OMIM:617564 |
Steinert Myotonic Dystrophy |
|
Early balding, Male hypogonadism, Cholelithiasis, Impotence, Alopecia, Decreased response to grow... |
ORPHA:273 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity |
ORPHA:293964 |
Congenital Myopathy 9A |
|
Obesity, Cryptorchidism |
OMIM:618822 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism |
OMIM:618512 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Anal atresia, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, High anterior hairline, Obesity, Polycystic ovaries, Hirsutism, Overgrowth |
OMIM:616831 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary amenorrhea, Micropenis, C... |
OMIM:147950 |
Retinitis Pigmentosa 59 |
|
Micropenis, Renal insufficiency, Cryptorchidism |
OMIM:613861 |
Intellectual Developmental Disorder, X-Linked 93 |
|
Cryptorchidism |
OMIM:300659 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Trisomy X |
|
Precocious puberty, Multicystic kidney dysplasia, Tall stature, Premature ovarian insufficiency, ... |
ORPHA:3375 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... |
ORPHA:3109 |
46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal |
OMIM:614279 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Cryptorchidism |
ORPHA:319332 |
Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Obesity |
OMIM:245800 |
Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... |
OMIM:194080 |
Hand-Foot-Genital Syndrome |
|
Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst... |
OMIM:140000 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea |
OMIM:264270 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Cystinuria, Nephrolithiasis |
ORPHA:163693 |
Wolfram Syndrome 1 |
|
Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Testicular atrophy, Diabetes ins... |
OMIM:222300 |
Fetal Akinesia Deformation Sequence 4 |
|
High palate, Cryptorchidism |
OMIM:618393 |
Coffin-Siris Syndrome 8 |
|
Cryptorchidism |
OMIM:618362 |
Chung-Jansen Syndrome |
|
Obesity, Thick eyebrow, Cryptorchidism, Synophrys |
OMIM:617991 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Cryptorchidism, High palate, Anal atresia, Anterior hypopituitarism |
ORPHA:2863 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Cryptorchidism |
OMIM:618766 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Micropenis, Hypospadias, Cryptorchidism |
OMIM:301830 |
Trisomy 4P |
|
Hypospadias, Cryptorchidism |
ORPHA:1738 |
Familial Congenital Mirror Movements |
|
Hypogonadotropic hypogonadism |
ORPHA:238722 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, ... |
ORPHA:3306 |
Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Hypothyroidism, Uterus didelphys |
ORPHA:2491 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
Autosomal Recessive Amelia |
|
Small scrotum, Hypoplasia of penis, Cryptorchidism |
ORPHA:1027 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Obesity, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:619737 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Chromosome 1P35 Deletion Syndrome |
|
Congenital hypothyroidism, Cryptorchidism, High palate |
OMIM:617930 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Micropenis, Hypospadias, Cryptorchidism |
OMIM:618815 |
Distal Deletion 10P |
|
Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate |
ORPHA:1580 |
Branchial Arch Syndrome, X-Linked |
|
High, narrow palate, High palate, Cryptorchidism |
OMIM:301950 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephr... |
OMIM:616629 |
48,Xxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Tall stature, Type II diabet... |
ORPHA:96263 |
Cofs Syndrome |
|
Hypogonadism |
ORPHA:1466 |
Lig4 Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Cryptorchidism, Low anterior hairline, Amenorrhea, ... |
OMIM:606593 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism |
ORPHA:2958 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Impotence, Amenorrhea |
OMIM:604250 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Unilateral cryptorchidism, Large for gestational age, Tall stature, Overgrowth |
ORPHA:137634 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... |
OMIM:202110 |
X-Linked Intellectual Disability, Seemanova Type |
|
Hypogonadism, High palate, Cryptorchidism |
ORPHA:85323 |
Diabetic Embryopathy |
|
Abnormal morphology of female internal genitalia, Tall stature, Cryptorchidism, Hydronephrosis, M... |
ORPHA:1926 |
Silver-Russell Syndrome |
|
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... |
ORPHA:813 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Nail dystrophy |
OMIM:613987 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Abnormality of the uterus, Breast aplasia, Obesity, Decreased fertility, Crypto... |
ORPHA:3138 |
Clark-Baraitser syndrome |
|
Tall stature, Macroorchidism, Obesity |
OMIM:300602 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Vaginal atresia, Hypoplastic labia majora, Fused labia minora |
OMIM:207410 |
Proximal Xq28 Duplication Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:1762 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism |
OMIM:616816 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Decreased testicular size, Hypospadias, Cryptorchidism |
OMIM:300997 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Micropenis, Cryptorchidism |
OMIM:619180 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
Reni Syndrome |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Adrenal i... |
OMIM:617575 |
Donohue Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Hypertrichosis, Hyperinsulinemia, Ovarian c... |
OMIM:246200 |
Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Abnormality of the adrenal glands, Hypospa... |
ORPHA:139466 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Micropenis, Decreased testicular size, Overweight, Decreased response to growth hormone stimulati... |
ORPHA:457240 |
Arthrogryposis, Distal, Type 1C |
|
Bifid uvula, High palate, Cryptorchidism, Cleft palate |
OMIM:619110 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Small scrotum, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism |
ORPHA:168593 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Cryptorchidism |
OMIM:619908 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
Stt3A-Cdg |
|
Micropenis, Small scrotum, Cryptorchidism |
ORPHA:370921 |
Prieto Syndrome |
|
Cryptorchidism |
OMIM:309610 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, High palate |
OMIM:615433 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... |
ORPHA:90301 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Premature ovarian insufficiency |
OMIM:619425 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Fetal Akinesia Deformation Sequence 2 |
|
High palate, Cryptorchidism, Cleft palate |
OMIM:618388 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:261102 |
Persistent Müllerian Duct Syndrome |
|
Male pseudohermaphroditism, Cryptorchidism |
ORPHA:2856 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Obesity, Macroorchidism |
OMIM:300055 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Micropenis, Hypospadias, Bilateral cryptorchidism |
OMIM:618840 |
Stt3B-Cdg |
|
Micropenis, Small scrotum, Cryptorchidism |
ORPHA:370924 |
Autosomal Dominant Omodysplasia |
|
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Bifid scrotum |
ORPHA:93328 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism |
ORPHA:2772 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
High, narrow palate, Cryptorchidism |
OMIM:273390 |
Camptobrachydactyly |
|
Urinary incontinence, Septate vagina |
OMIM:114150 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Small scrotum, Cryptorchidism |
OMIM:615597 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypospadias |
ORPHA:171839 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... |
ORPHA:64739 |
Joubert Syndrome 37 |
|
Decreased testicular size, Obesity, Cryptorchidism, Hydronephrosis, Micropenis, Sparse hair |
OMIM:619185 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, External genital hypoplasia, Obesity |
OMIM:600151 |
Glucocorticoid Deficiency 2 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Increased circulating ACTH leve... |
OMIM:607398 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Abnormality of reproductive system physiology, Hypertrichos... |
ORPHA:1501 |
Xp22.13P22.2 Duplication Syndrome |
|
High anterior hairline, Polycystic ovaries, Truncal obesity, Macroorchidism, Sparse hair |
ORPHA:284180 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Interstitial Cystitis |
|
Functional abnormality of the bladder, Abnormal vagina morphology, Abnormality of the urethra, Ur... |
ORPHA:37202 |
Preeclampsia |
|
Chronic kidney disease, Type I diabetes mellitus, Acute kidney injury, Renal insufficiency, Polyc... |
ORPHA:275555 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena... |
OMIM:613390 |
Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Cryptorchidism, Hydronephrosis, Urethral valve, Enuresis |
OMIM:236730 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Cryptorchidism |
OMIM:604317 |
Renal Agenesis |
|
Unilateral renal agenesis, Absent vas deferens, Aplasia/hypoplasia of the uterus, Ureteral agenes... |
ORPHA:411709 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism |
ORPHA:461 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Renal hypoplasia, Tall stature, Obesity, Shawl scrotum, Micropenis |
OMIM:620439 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... |
OMIM:300845 |
Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptor... |
ORPHA:2473 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Diabetes mellitus, Cryptorchidism |
OMIM:249270 |
46,Xx Sex Reversal 4 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... |
OMIM:617480 |
Leopard Syndrome 1 |
|
Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of ... |
OMIM:151100 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Obesity, Vesicoureteral reflux, Cryptorchidism, Pseudohypoparathyroidism, Abnor... |
ORPHA:464288 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
Ruvalcaba Syndrome |
|
Delayed puberty, Cryptorchidism |
OMIM:180870 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... |
OMIM:274300 |
X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Nephrotic syndrome, Abnormal urinary electrolyte concentration, Hypogonadism, Noctur... |
ORPHA:85450 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
Carpenter Syndrome |
|
Abnormal reproductive system morphology, External genital hypoplasia, Obesity, Cryptorchidism |
ORPHA:65759 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:90695 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypogonadism, Low urinary cyclic AMP response to ... |
OMIM:103580 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ambiguous gen... |
OMIM:300219 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, High palate, Cleft palate |
ORPHA:1135 |
Birk-Aharoni Syndrome |
|
Micropenis, Cryptorchidism |
OMIM:620071 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Micropenis, Abnormality of the tongue muscle, Cryptorchidism |
ORPHA:370968 |
Imagawa-Matsumoto Syndrome |
|
Cryptorchidism, Anteriorly placed anus |
OMIM:618786 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Nephrocalcinosis, Insulin-resistant diabete... |
ORPHA:769 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Cryptorchidism |
OMIM:616910 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Dysmenorrhea, Polycystic ovaries, Generalized hirsutism, Oli... |
ORPHA:79083 |
Distal Duplication 15Q |
|
Abnormal female external genitalia morphology, High palate, Anal atresia, Cryptorchidism |
ORPHA:1707 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Hypoplasia of penis, Cryptorchidism, Shawl scrotum |
ORPHA:2256 |
Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Hypogonadism |
OMIM:302950 |
Camurati-Engelmann Disease, Type 2 |
|
Hypogonadism, Delayed puberty |
OMIM:606631 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cryptorchidism |
OMIM:620135 |
15Q24 Microdeletion Syndrome |
|
High anterior hairline, Failure to thrive, Microphallus, Decreased response to growth hormone sti... |
ORPHA:94065 |
Acrocallosal Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:36 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... |
OMIM:608800 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis |
ORPHA:722 |
Bardet-Biedl Syndrome |
|
Chronic kidney disease, Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Polycystic o... |
ORPHA:110 |
Prader-Willi Syndrome |
|
Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Frontal upsweep of ha... |
OMIM:176270 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Cryptorchidism, Cleft palate, Coronal hypospadias |
ORPHA:921 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Horseshoe kidney, Nail dystrophy, Hirsutism, Increased body weight, Low post... |
OMIM:300860 |
46,Xy Sex Reversal 6 |
|
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,... |
OMIM:613762 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility |
ORPHA:1445 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... |
OMIM:181450 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Micropenis, Perianal abscess, Cryptorchidism |
OMIM:614684 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Alopecia, Decreased testicular size, Hypoplasia of the ovary, Abdominal obesity... |
OMIM:619321 |
Macrocephaly/Autism Syndrome |
|
Coarse hair, Obesity, Penile freckling, Large for gestational age, Overgrowth, Hydrocele testis |
OMIM:605309 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Decreased testicular size, High palate, Cryptorchidism |
ORPHA:85279 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... |
ORPHA:71526 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Diabetes mellitus, Cryptorchidism |
OMIM:615381 |
Congenital Myopathy 19 |
|
Hydronephrosis, High palate, Cryptorchidism |
OMIM:618578 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypogonadism, Small scrotum, Hypoplasia of penis |
ORPHA:2983 |
Lipodystrophy, Familial Partial, Type 4 |
|
Oligomenorrhea, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... |
ORPHA:91347 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Stankiewicz-Isidor Syndrome |
|
Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis, Ureteral duplication, Hypospadias |
OMIM:617516 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
ORPHA:2298 |
Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia, Abnormality of the hairline |
OMIM:248450 |
Xq12-Q13.3 Duplication Syndrome |
|
Decreased serum insulin-like growth factor 1, Cryptorchidism |
ORPHA:314389 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Cleft palate |
OMIM:601349 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
High palate, Cryptorchidism |
ORPHA:178148 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
Boomerang Dysplasia |
|
Decreased response to growth hormone stimulation test, Cryptorchidism |
ORPHA:1263 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Fine hair, Abnormal morphology of female internal genitalia, Hematuria, Sparse hair |
ORPHA:1839 |
Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Intestinal fistula, Congenital hypothyroidism, Cryptorchidism, Hydr... |
ORPHA:709 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Cryptorchidism |
OMIM:611890 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Shawl scrotum, Di... |
ORPHA:261265 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Failure to thrive, Renal tubular acidosis, Dysmenorrhea, Polycystic ovari... |
ORPHA:264580 |
Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism |
ORPHA:638 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia of penis, D... |
ORPHA:3157 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
Caudal Duplication Anomaly |
|
Ureteral duplication, Uterus didelphys |
OMIM:607864 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis, Cryptorchidism |
OMIM:618504 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of penis, Bifid scrotum, Synophrys |
ORPHA:1295 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... |
OMIM:618820 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... |
OMIM:602668 |
Rin2 Syndrome |
|
Premature ovarian insufficiency, High palate, Cryptorchidism, Hypergonadotropic hypogonadism |
ORPHA:217335 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Cryptorchidism, Cleft palate |
ORPHA:1166 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypogonadism, Hypoplastic nipples, Aminoaciduria |
OMIM:273400 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism |
OMIM:600118 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:619595 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Hypogonadism, Small scrotum, Cryptorchidism |
ORPHA:228390 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Abnormal vagina morphology |
ORPHA:2123 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Dysmenorrhea, Generalized hirsutism, Polycystic ovaries, Diabetes mellitus, Secondary amenorrhea |
ORPHA:2348 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal vagina morphology, Failure to thrive, Abnormality of the female genitalia, Hyd... |
ORPHA:2315 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Bifid uvula, Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hy... |
OMIM:241410 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypoplastic female external genitalia, Cryptorchidism |
OMIM:618577 |
Femoral-Facial Syndrome |
|
Long penis, Cryptorchidism, Maternal diabetes, Polycystic kidney dysplasia, Cleft palate |
ORPHA:1988 |
Lumbar Syndrome |
|
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... |
ORPHA:83628 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Cryptorchidism |
ORPHA:67044 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoinsulinemia, Large for gestational age, Obesity, Truncal obesity |
OMIM:240900 |
Tetraamelia Syndrome 1 |
|
Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Vaginal atresia, Hypoplasia ... |
OMIM:273395 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism |
OMIM:210700 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypogonadism, Decreased testicular size, Obesity, Cachexia, Abnormal hair pattern, Hypoplasia of ... |
ORPHA:85293 |
Distal Duplication 18Q |
|
Abnormal female external genitalia morphology, Hypoplasia of penis, Cryptorchidism, High palate |
ORPHA:1716 |
Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... |
ORPHA:251937 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Metrorrhagia, Weight loss, Ovarian... |
ORPHA:370348 |
Filippi Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
OMIM:272440 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Cleft palate, Cryptorchidism, Hypergonadotropic hypogonadism |
ORPHA:250999 |
Riboflavin Transporter Deficiency |
|
Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Bifid uvula, Insulin-resistant diabetes mellitus, Decreased testicular size, Cryptorchidism, Hypo... |
ORPHA:293967 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi... |
OMIM:615926 |
Cowden Syndrome 6 |
|
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... |
OMIM:615109 |
Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Bifid uvula, Cryptorchidism, Micropenis, Hypospadias |
ORPHA:2872 |
Mccune-Albright Syndrome |
|
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... |
OMIM:174800 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cleft palate, Abnormality of the parathyroid gland, Cryptorchidism |
ORPHA:3429 |
Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Cryptorchidism, Cleft palate |
OMIM:101805 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Hypogonadism, Premature ovarian insufficiency, Abnormality of the thyroid gland, Diabetes mellitus |
OMIM:609286 |
Caudal Regression Syndrome |
|
Abnormality of the ureter, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Ambiguous ... |
ORPHA:3027 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal morphology of female internal genitalia |
ORPHA:1797 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Hypothyroidism, Protein-losing enteropathy, Cryptorchidism |
OMIM:608104 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Bilateral cryptorchidism, Obesity, Proteinuria, Micropenis |
OMIM:619471 |
Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
Richards-Rundle Syndrome |
|
Ketonuria, Hypergonadotropic hypogonadism |
ORPHA:1399 |
Weaver Syndrome |
|
Hypoplasia of penis, Cryptorchidism |
ORPHA:3447 |
Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis |
ORPHA:90646 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Failure to thrive, Abnormality of the uterus, Horseshoe kidne... |
ORPHA:2470 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Hypogonadism, Cryptorchidism, Micropenis, Overweight |
ORPHA:500055 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Cryptorchidism, Low anterior hairline, Hypothyroidism, Overweight, Smal... |
OMIM:617796 |
Omodysplasia 2 |
|
Uterus didelphys, Cryptorchidism, Cleft palate, Dyspareunia, Labial hypoplasia, Micropenis, Hypos... |
OMIM:164745 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia, Absent outer dynein arms |
OMIM:618300 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism |
ORPHA:452 |
Donnai-Barrow Syndrome |
|
Proteinuria, Intestinal malrotation, Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Protein-losing enteropathy, Increased circulating androgen concent... |
ORPHA:79320 |
Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Bifid uvula, Decreased testicular size, Primary adrenal insufficiency, Perin... |
ORPHA:2753 |
Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatou... |
OMIM:617100 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Renal tubular acidosis, Dysmenorrhea, Polycystic ovaries, Increased body ... |
ORPHA:79240 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Cleft palate |
OMIM:164180 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal hypoplasia, Bifid scrotum, Renal insufficiency, Cryptorchidism, Hypothyroidism, Hypoplasia ... |
ORPHA:85321 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism |
ORPHA:466926 |
Fg Syndrome 3 |
|
Cryptorchidism, Pyloric stenosis |
OMIM:300406 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Cryptorchidism, Cleft palate |
ORPHA:1636 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney... |
OMIM:614527 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Micropenis, Macroglossia, Cryptorchidism |
OMIM:613156 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Decreased testicular size, Cryptorchidism, 3-Methylglutaconic aciduria... |
OMIM:610198 |
Lead Poisoning |
|
Chronic kidney disease, Decreased male libido, Abnormality of the menstrual cycle, Decreased circ... |
ORPHA:330015 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Microgastria, Horseshoe kidney, Intestinal malrotation, Crossed fus... |
ORPHA:2538 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Hypospadias |
OMIM:619718 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:618917 |
Hermansky-Pudlak Syndrome 6 |
|
Perineal fistula, Endometriosis, Neurogenic bladder, Urinary incontinence, Anal atresia |
OMIM:614075 |
Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
Trisomy 13 |
|
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Disp... |
ORPHA:3378 |
Mcdonough Syndrome |
|
Cryptorchidism |
ORPHA:2471 |
Cowden Syndrome 5 |
|
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... |
OMIM:615108 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... |
ORPHA:412057 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hypogonadism, Decreased testicular size, External genital hypoplasia, Micropenis, High palate |
ORPHA:3041 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism |
ORPHA:404451 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricosuria, Nephrocalcinosis, Nephrolithiasis |
OMIM:300322 |
Fraser Syndrome 1 |
|
Clitoral hypertrophy, Renal hypoplasia, Extension of hair growth on temples to lateral eyebrow, C... |
OMIM:219000 |
Multifocal Atrial Tachycardia |
|
Hypothyroidism, Cryptorchidism |
ORPHA:3282 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Sparse pubic hair, Sparse... |
OMIM:604292 |
Ochoa Syndrome |
|
Urethral obstruction, Vesicoureteral reflux, Cryptorchidism, Renal insufficiency, Hydronephrosis,... |
ORPHA:2704 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis, Cryptorchidism |
OMIM:619797 |
Apert Syndrome |
|
Vaginal atresia, Hydronephrosis, Cryptorchidism |
OMIM:101200 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Horseshoe kidney, Cryptorchidism, Ectopic kidney, Small for gestational age, Hy... |
OMIM:227650 |
8Q22.1 Microdeletion Syndrome |
|
Hypogonadism, Cryptorchidism, Submucous cleft hard palate |
ORPHA:178303 |
Rahman Syndrome |
|
Cryptorchidism |
OMIM:617537 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis |
ORPHA:335 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, External genital hypoplasia, Cryptorchidism |
ORPHA:1867 |
Noonan Syndrome 8 |
|
Large for gestational age, Cryptorchidism, Failure to thrive, Curly hair |
OMIM:615355 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Irregular menstruation, Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroe... |
ORPHA:189427 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Obesity, Thick eyebrow, Cryptorchidism, Proportionate tall stature |
ORPHA:404443 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Menorrhagia |
ORPHA:168816 |
Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Large for gestational age, Cryptorchidism |
ORPHA:169189 |
13Q12.3 Microdeletion Syndrome |
|
Obesity, Cryptorchidism, Failure to thrive |
ORPHA:412035 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism |
OMIM:618958 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Bifid scrotum, Abnormal morphology of f... |
ORPHA:887 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Imperforate hymen, Hematocolpos, Enuresis, Grade III vesicoureteral reflux, Ureteropelvic junctio... |
OMIM:619522 |
Tonne-Kalscheuer Syndrome |
|
Velopharyngeal insufficiency, Decreased testicular size, Cryptorchidism, Micropenis, Hypospadias |
OMIM:300978 |
Wolfram Syndrome 2 |
|
Diabetes insipidus, Oligomenorrhea, Diabetes mellitus, Primary amenorrhea |
OMIM:604928 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
OMIM:609757 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Cryptorchidism |
ORPHA:2617 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, Moderate albuminuria, Hypogonadism, External genital hypoplasia, Obesity, Cryptorc... |
OMIM:614231 |
Freeman-Sheldon Syndrome |
|
Cryptorchidism |
ORPHA:2053 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Diabetes mellitus, Cryptorchidism |
ORPHA:500159 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... |
OMIM:271520 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Obesity, Cryptorchidism, Generalized hirsutism, Hypothyroidism, Hypospadias, ... |
ORPHA:254346 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Cleft palate |
OMIM:615502 |
Sifrim-Hitz-Weiss Syndrome |
|
Bifid uvula, Anteriorly placed anus, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, ... |
OMIM:617159 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Hydroureter, Septate vagina, Crossed fused renal ectopia, Vesicoureteral re... |
OMIM:300707 |
Bachmann-Bupp Syndrome |
|
Large for gestational age, Cryptorchidism, Sparse eyelashes, Absent eyebrow, Sparse scalp hair |
OMIM:619075 |
Phocomelia, Schinzel Type |
|
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... |
ORPHA:2879 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Delayed puberty, Cryptorchidism, 3-Methylglutaconic aciduria |
ORPHA:496790 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Cryptorchidism |
OMIM:615419 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Pyloric stenosis, High palate, Bilateral cryptorchidism |
ORPHA:314575 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Cryptorchidism |
OMIM:620365 |
Prune Belly Syndrome |
|
Xerostomia, Hydroureter, Cryptorchidism, Hydronephrosis, Anal atresia, Congenital posterior ureth... |
OMIM:100100 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Hypoplastic nipples, Absent nipple, Cryptorchidism, Male urethral meatus stenosis |
OMIM:616001 |
X-Linked Intellectual Disability, Pai Type |
|
Hydrocele testis, Cryptorchidism |
ORPHA:85322 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Hamartoma of tongue, Cryptorchidism |
ORPHA:1338 |
Noonan Syndrome 5 |
|
Sparse eyebrow, Fine hair, Large for gestational age, Cryptorchidism, Curly hair |
OMIM:611553 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Hypospadias, Cryptorchidism, Curly hair |
ORPHA:457485 |
German Syndrome |
|
High palate, Ambiguous genitalia, Cryptorchidism |
ORPHA:2077 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Cryptorchidism |
ORPHA:3010 |
Craniofacial Dyssynostosis With Short Stature |
|
Horseshoe kidney, Hypospadias, Cryptorchidism, Pyloric stenosis |
OMIM:218350 |
Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Cryptorchidism |
OMIM:618484 |
Lig4 Syndrome |
|
Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus, Cryptorchidism |
ORPHA:99812 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Micropenis, Cryptorchidism |
OMIM:612447 |
Cowden Syndrome 1 |
|
Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi... |
OMIM:158350 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Hypothyroidism, Delayed puberty, Cryptorchidism |
OMIM:616817 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Primary amenorrhea |
ORPHA:3220 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormality of the ureter, Hypospadias, Cryptorchidism, Abnormal morphology of female internal ge... |
ORPHA:2311 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
High palate, Cryptorchidism |
OMIM:620316 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Cryptorchidism, Cleft palate |
OMIM:600325 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cryptorchidism, Microphallus |
OMIM:300957 |
Mirage Syndrome |
|
Microphallus, Esophageal stricture, Decreased testicular size, Adrenal insufficiency, Cryptorchid... |
OMIM:617053 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Sparse hair, Rectovaginal... |
OMIM:129900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Aplasia of the uterus, Cleft palate |
ORPHA:3320 |
49,Xxxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... |
ORPHA:96264 |
Seckel Syndrome 5 |
|
Clitoral hypertrophy, Cryptorchidism, High palate, Hypospadias, Cleft palate |
OMIM:613823 |
Heart-Hand Syndrome Type 2 |
|
Cryptorchidism |
ORPHA:1350 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Horseshoe kidney, High palate, Hypoplastic male external genitalia, Cryptorchidism |
ORPHA:502434 |
Becker Nevus Syndrome |
|
Hypoplastic labia minora, Abnormal scrotum morphology, Supernumerary nipple |
ORPHA:64755 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism |
OMIM:617788 |
Smith-Kingsmore Syndrome |
|
Large for gestational age, Cryptorchidism, Curly hair |
OMIM:616638 |
8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, High palate, Hypoplasia... |
ORPHA:251066 |
Renal Nutcracker Syndrome |
|
Varicocele, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval varicose vein, We... |
ORPHA:71273 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia |
OMIM:619879 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hydronephrosis, Small scrotum, Hypoplasia of penis, Cryptorchidism |
ORPHA:2083 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Tall stature, Labial hypertrophy, Hyperinsulinemia, Polycystic ovaries, Nep... |
OMIM:608594 |
Snijders Blok-Fisher Syndrome |
|
Cryptorchidism |
OMIM:618604 |
Fryns Microphthalmia Syndrome |
|
Unicornuate uterus, Bilateral cleft palate |
OMIM:600776 |
Currarino Syndrome |
|
Bifid scrotum, Vesicoureteral reflux, Male pseudohermaphroditism, Hypoplasia of penis, Hypospadias |
ORPHA:1552 |
Chand Syndrome |
|
Imperforate hymen, Hydroureter, Curly hair |
ORPHA:1401 |
Pde4D Haploinsufficiency Syndrome |
|
Obesity, Hypospadias, Cryptorchidism, Elevated circulating parathyroid hormone level |
ORPHA:439822 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Cryptorchidism |
ORPHA:228402 |
Fraser Syndrome |
|
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Abnormal... |
ORPHA:2052 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, mal... |
ORPHA:2075 |
Peters-Plus Syndrome |
|
Renal hypoplasia, Anteriorly placed anus, Cryptorchidism, Hydronephrosis, Hypoplastic labia major... |
OMIM:261540 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Intestinal malrotation, Ectopic kidney, Cryptorchidism |
ORPHA:401935 |
Ring Chromosome 12 Syndrome |
|
High, narrow palate, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hypothyroidism, Ut... |
ORPHA:1439 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Small scrotum, Cryptorchidism |
ORPHA:1970 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hypogonadism, Cholelithiasis, Type II diabetes mellitus |
ORPHA:79095 |
Marinesco-Sjögren Syndrome |
|
Hypogonadism, External genital hypoplasia |
ORPHA:559 |
Chromosome 16Q22 Deletion Syndrome |
|
High palate, Hypospadias, Cryptorchidism |
OMIM:614541 |
Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Cryptorchidism, Abnormal testis morphology |
ORPHA:3051 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism |
OMIM:620073 |
Adrenoleukodystrophy |
|
Urinary bladder sphincter dysfunction, Hypogonadism, Primary adrenal insufficiency, Urinary incon... |
OMIM:300100 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism |
ORPHA:139471 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Micropenis, Cryptorchidism, Cleft palate |
OMIM:610125 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Tall stature, Labial hypertrophy, Hyperinsulinemia, Type II diabetes mellit... |
OMIM:269700 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Tracheoesophageal fistula, Es... |
OMIM:614083 |
Limb-Mammary Syndrome |
|
Bifid uvula, Absent nipple, Breast aplasia, Aplasia of the ovary, Submucous cleft soft palate, Ap... |
ORPHA:69085 |
Bresek Syndrome |
|
Renal hypoplasia, Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Aganglionic m... |
ORPHA:85284 |
Bjornstad Syndrome |
|
Hypogonadism, Anhidrosis |
OMIM:262000 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Supernumerary nipple |
OMIM:617635 |
Allan-Herndon-Dudley Syndrome |
|
Abnormality of thyroid physiology, Cryptorchidism |
ORPHA:59 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Micropenis, Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple |
ORPHA:2519 |
King-Denborough Syndrome |
|
High palate, Cryptorchidism, Bilateral cryptorchidism |
OMIM:619542 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Renal insufficie... |
ORPHA:96179 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis, Cryptorchidism |
OMIM:618060 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Generalized hirsutism, Hypospadias |
ORPHA:2505 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Medullary nephrocalcinosis, Cryptorchidism... |
ORPHA:363528 |
Blepharonasofacial Malformation Syndrome |
|
Cryptorchidism, Cleft palate |
ORPHA:1252 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea |
ORPHA:2975 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Unilateral renal agenesis, Elevated circulating parathyroid hormone level... |
OMIM:101800 |
Chronic Mucocutaneous Candidiasis |
|
Hematuria, Dyspareunia, Abnormal vagina morphology |
ORPHA:1334 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Male sexual dysfunction, Bifid... |
ORPHA:322 |
Aniridia-Absent Patella Syndrome |
|
Cryptorchidism |
ORPHA:1069 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Highly arched eyebrow, Failure to thrive, Obesity, Vesicoureteral reflux, Renal insufficiency, Cr... |
ORPHA:96147 |
Tyshchenko Syndrome |
|
High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, High palate, Cleft palate |
OMIM:615102 |
Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism, Hypospadias, Cryptorchidism, Cleft palate |
OMIM:603736 |
Martin-Probst Syndrome |
|
Bifid scrotum, Renal insufficiency, Cryptorchidism, Proteinuria, Hypoplastic nipples, Chordee, Hy... |
OMIM:300519 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadism, Delayed puber... |
ORPHA:2326 |
Myhre Syndrome |
|
Abnormal penis morphology, Precocious puberty, Hypogonadism, External genital hypoplasia, Cryptor... |
ORPHA:2588 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism |
ORPHA:2701 |
Non-Distal Duplication 13Q |
|
High palate, Cryptorchidism |
ORPHA:1702 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia... |
OMIM:618280 |
Wagro Syndrome |
|
Proteinuria, Decreased testicular size, Hypoplastic female external genitalia, Obesity |
OMIM:612469 |
Hand-Foot-Genital Syndrome |
|
Abnormality of the urethra, Abnormality of the uterus, Ureteropelvic junction obstruction, Vesico... |
ORPHA:2438 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Micro Syndrome |
|
Cryptorchidism, Hydronephrosis, Delayed puberty, High palate, Hypoplasia of penis, Hypoplastic la... |
ORPHA:2510 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... |
ORPHA:300298 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Hypogonadism, External genital hypoplasia, Cryptorchidism, Submucous cleft hard pala... |
ORPHA:2250 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Female infertility, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Failu... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Alopecia, Female infertility, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Failu... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Female infertility, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Failu... |
ORPHA:99226 |
Turner Syndrome |
|
Alopecia, Female infertility, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Failu... |
ORPHA:881 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Cryptorchidism, Shawl scrotum |
ORPHA:1778 |
Kleefstra Syndrome 1 |
|
Obesity, Cryptorchidism, Micropenis, Hypospadias, Synophrys |
OMIM:610253 |
Triploidy |
|
Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Macroglossia, Hypoplasia of penis, H... |
ORPHA:3376 |
Cree Impaired Intellectual Development Syndrome |
|
Cleft soft palate, Hypospadias, Cryptorchidism, Bifid scrotum |
OMIM:606851 |
Isolated Atp Synthase Deficiency |
|
Hypogonadism, Renal hypoplasia, Hypothyroidism, 3-Methylglutaconic aciduria |
ORPHA:254913 |
Ruvalcaba Syndrome |
|
Hematuria, Delayed puberty, Cryptorchidism |
ORPHA:3121 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Hypothyroidism, Diabetes mellitus |
ORPHA:98673 |
Fetal Hydantoin Syndrome |
|
Cleft palate, Cryptorchidism, Bifid scrotum |
ORPHA:1912 |
Meacham Syndrome |
|
Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina, En... |
OMIM:608978 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
High palate, Hypospadias, Cryptorchidism |
ORPHA:98791 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... |
ORPHA:95494 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Hypogonadism, Decreased testicular size, Cryptorchidism, Hydronephrosis, Mic... |
OMIM:612513 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria |
ORPHA:1194 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... |
OMIM:615954 |
Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Obesity, Elevated circulating parathyroid ... |
OMIM:603233 |
Waardenburg Syndrome, Type 4C |
|
Hypogonadism, Aganglionic megacolon, Cryptorchidism, Lacrimal gland hypoplasia |
OMIM:613266 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Cryptorchidism |
ORPHA:88639 |
Gapo Syndrome |
|
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea |
ORPHA:2067 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnorma... |
ORPHA:93111 |
Hydrolethalus |
|
Abnormal fallopian tube morphology, Cryptorchidism |
ORPHA:2189 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
High palate, Hypospadias, Cryptorchidism |
OMIM:300004 |
Chromosome 18P Deletion Syndrome |
|
Gonadal dysgenesis, Decreased testicular size, Cryptorchidism, Micropenis, High palate |
OMIM:146390 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body mass inde... |
OMIM:614450 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Cryptorchidism |
ORPHA:3082 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased adiponectin level, Premature graying of hair, Dysmenorrhea, Polycystic ovaries, General... |
ORPHA:280365 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
High palate, Cryptorchidism |
ORPHA:1145 |
Schuurs-Hoeijmakers Syndrome |
|
Volvulus, Cryptorchidism |
OMIM:615009 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Ovarian cyst, Renal cyst, Weight loss, Membranous nephropathy |
ORPHA:400 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism... |
OMIM:618440 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Large for gestational age, Cryptorchidism, Hydronephrosis... |
OMIM:610733 |
Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Duodenal atresia, Hyperg... |
OMIM:300514 |
Warburg Micro Syndrome 4 |
|
Micropenis, Small scrotum, Cryptorchidism, Decreased testicular size |
OMIM:615663 |
Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesity, Central ad... |
ORPHA:54595 |
Noonan Syndrome 9 |
|
Hydroureter, Cryptorchidism |
OMIM:616559 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Elevated circulating thyroid-stimulating hormone concentration, Crypt... |
OMIM:618183 |
Cockayne Syndrome Type 2 |
|
Male hypogonadism, Cryptorchidism |
ORPHA:90322 |
Familial Afibrinogenemia |
|
Menometrorrhagia |
ORPHA:98880 |
Distal Triplication 15Q |
|
Horseshoe kidney, Birth length greater than 97th percentile, Large for gestational age, Hydroneph... |
ORPHA:314588 |
Currarino Syndrome |
|
Horseshoe kidney, Septate vagina, Vesicoureteral reflux, Neurogenic bladder, Urinary incontinence... |
OMIM:176450 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Vaginal atresia, Horseshoe kidney, Hydrometrocolpos |
OMIM:617088 |
Pallister-Hall Syndrome |
|
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... |
ORPHA:672 |
Ohdo Syndrome |
|
Proteinuria, Small scrotum, Cryptorchidism |
OMIM:249620 |
Buratti-Harel Syndrome |
|
Bifid uvula, Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, High pala... |
OMIM:619314 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:435938 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Cryptorchidism, Penoscrotal hypospadias, Micropenis, High palate, Cleft palate |
OMIM:617164 |
Zellweger Syndrome |
|
Clitoral hypertrophy, Multicystic kidney dysplasia, Primary adrenal insufficiency, Cryptorchidism... |
ORPHA:912 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Kbg Syndrome |
|
Cryptorchidism, Cleft palate |
ORPHA:2332 |
Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Failure to thrive, Large for gestational age, Vesicoureteral reflux, Overgrowth |
ORPHA:261652 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... |
ORPHA:276608 |
Diphallia |
|
Penoscrotal transposition, Bifid scrotum, Duplicated colon, Horseshoe kidney, Ectopic scrotum, Di... |
ORPHA:227 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism |
OMIM:620012 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of penis, Hypospadias |
ORPHA:77298 |
Werner Syndrome |
|
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Decreased fertility, Aplasia/Hypoplas... |
ORPHA:902 |
Aarskog-Scott Syndrome |
|
Cleft palate, Cryptorchidism, Shawl scrotum |
ORPHA:915 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Micropenis, Small scrotum, Cryptorchidism, Microphallus |
OMIM:300486 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, High palate |
ORPHA:2115 |
Oeis Complex |
|
Hydroureter, Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitali... |
OMIM:258040 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Cryptorchidism, Abnormal tongue morphology |
ORPHA:531151 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Cryptorchidism |
OMIM:616789 |
7Q11.23 Microduplication Syndrome |
|
Unilateral renal agenesis, Enuresis, Aplasia/hypoplasia of the uterus, Cryptorchidism, Hydronephr... |
ORPHA:96121 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g... |
ORPHA:991 |
Malakoplakia |
|
Urinary bladder inflammation, Dysuria, Abnormality of the menstrual cycle, Urinary hesitancy, Orc... |
ORPHA:556 |
Bloom Syndrome |
|
Hypertrichosis, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in fe... |
OMIM:210900 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Cryptorchidism, Supernumerary nipple |
OMIM:618109 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Adenoma sebaceum, Sparse lateral eyebrow, Fine hair, Abnormal morphology of female internal genit... |
ORPHA:3353 |
Obesity And Hypopigmentation |
|
Red hair, Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi... |
OMIM:615830 |
Osteoglosphonic Dysplasia |
|
Cryptorchidism |
ORPHA:2645 |
Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Neoplasm of the pancreas, Elevated urinary catecholamin... |
ORPHA:892 |
Poems Syndrome |
|
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Hypot... |
ORPHA:2905 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Clef... |
ORPHA:1300 |
Toluene Embryopathy |
|
Hydronephrosis, Cryptorchidism |
ORPHA:1920 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Perineal hypospadias |
ORPHA:3134 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary amenorrhea, Micr... |
OMIM:603457 |
Ruijs-Aalfs Syndrome |
|
Hypogonadism |
OMIM:616200 |
Trisomy 8Q |
|
Cryptorchidism, Displacement of the urethral meatus, High palate, Bifid tongue, Hypoplasia of pen... |
ORPHA:1752 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Pheochromocytoma, Unilateral renal hypoplasia, Cryptorchidism |
ORPHA:2874 |
Pseudotrisomy 13 Syndrome |
|
Renal hypoplasia, Median cleft palate, Cryptorchidism, Adrenal hypoplasia, Micropenis, Anal atres... |
OMIM:264480 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydronephrosis, Abnormality of the ureter, Renal cyst, Abnormal morphology of female internal gen... |
ORPHA:1834 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Testicular torsion, Cryptorchidism |
ORPHA:75496 |
Acrodysostosis |
|
Hypogonadism, Irregular menstruation, Abnormal female external genitalia morphology, Cryptorchidism |
ORPHA:950 |
Adams-Oliver Syndrome 1 |
|
Imperforate hymen, Alopecia, Supernumerary nipple |
OMIM:100300 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... |
ORPHA:99889 |
Sanjad-Sakati Syndrome |
|
Cryptorchidism, Intestinal obstruction, Congenital hypoparathyroidism, Hypoparathyroidism, Hypopl... |
ORPHA:2323 |
Myopathy, Centronuclear, X-Linked |
|
High palate, Cryptorchidism, Pyloric stenosis |
OMIM:310400 |
Carpenter Syndrome 1 |
|
Precocious puberty, Hydroureter, External genital hypoplasia, Obesity, Cryptorchidism, Hydronephr... |
OMIM:201000 |
Mody |
|
Abnormal circulating insulin concentration, Nephropathy, Pancreatic hypoplasia, Insulin-resistant... |
ORPHA:552 |
Trisomy 1Q |
|
Small scrotum, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ambiguous genitalia,... |
ORPHA:261344 |
Johnson Neuroectodermal Syndrome |
|
Hypogonadism, Cleft palate |
ORPHA:2316 |
Fanconi Anemia, Complementation Group E |
|
Horseshoe kidney, Cryptorchidism, Prolonged G2 phase of cell cycle, Ectopic kidney, Hypergonadotr... |
OMIM:600901 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Multiple bladder diverticula, Cryptorchidism, Proteinuria, Cleft palate |
ORPHA:2728 |
Sotos Syndrome |
|
Sparse eyebrow, High anterior hairline, Tall stature, Cryptorchidism, Increased body weight, Over... |
OMIM:117550 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Microglossia, Renal insufficiency, Cryptorchidism, Proteinuria, High palate, Cl... |
ORPHA:1307 |
3Mc Syndrome 3 |
|
Bifid scrotum, Horseshoe kidney, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Cleft palate |
OMIM:248340 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Intestinal pseudo-obstruction |
ORPHA:73246 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Increased circulating ACTH level, Obesity, Nephrolithiasis, Hirsutism, Oligome... |
OMIM:219090 |
Alg9-Cdg |
|
Hypertrichosis, Hydronephrosis, Low posterior hairline, Hypoplastic nipples, Hypoplasia of the ov... |
ORPHA:79328 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Anteriorly placed anus, Cryptor... |
OMIM:618494 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Proteinuria, Generaliz... |
ORPHA:79086 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Hypogonadism, Cryptorchidism, Ectopic a... |
ORPHA:96170 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Proximal renal tubular acidosis |
OMIM:615824 |
Alstrom Syndrome |
|
Irregular menstruation, Nephritis, Alopecia, Insulin-resistant diabetes mellitus, Decreased respo... |
OMIM:203800 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Renal cyst, Abnormality of the endocrine system, Cryptorchidism |
ORPHA:166035 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hypoplasia of penis, Cleft palate |
ORPHA:1812 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorch... |
OMIM:613457 |
Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Small scrotum, Renal hypoplasia, Unilateral renal agenesis, Failure to thrive... |
OMIM:270400 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Failure to thrive, Abnormal morphology of female internal genitalia, Abnormal hair m... |
ORPHA:289 |
Peutz-Jeghers Syndrome |
|
Uterine neoplasm, Abnormality of the ureter, Ovarian cyst, Precocious puberty with Sertoli cell t... |
OMIM:175200 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Clitoral hypertrophy, Cryptorchidism, Hypoplasia of the thymus, Polycystic kidney ... |
OMIM:214110 |
Warburg Micro Syndrome 2 |
|
Micropenis, Small scrotum, Hypoplastic labia majora, Cryptorchidism |
OMIM:614225 |
Kleefstra Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Obesity, Renal insufficiency, Cryptorchidism, Vesico... |
ORPHA:261494 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility |
OMIM:617091 |
Werner Syndrome |
|
Hypogonadism, Diabetes mellitus |
OMIM:277700 |
H Syndrome |
|
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di... |
ORPHA:168569 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Narrow palate, Anal atresia, Cryptorchidism |
ORPHA:2063 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss, Hypospadias, Cryptorchidism |
ORPHA:251071 |
Von Hippel-Lindau Syndrome |
|
Pheochromocytoma, Paraganglioma, Multiple renal cysts, Epididymal cyst, Pancreatic cysts, Neoplas... |
OMIM:193300 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:293978 |
Arthrogryposis, Distal, Type 1A |
|
Cryptorchidism |
OMIM:108120 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria, Cryptorchidism |
OMIM:614857 |
Dyskeratosis Congenita |
|
Alopecia, White hair, Abnormal morphology of female internal genitalia, Premature graying of hair... |
ORPHA:1775 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Uterus didelphys, Septate vagina, Absent gallbladder, Low posterior hairline, Micropenis |
OMIM:617925 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Anal atresia, Adrenal hypoplasia, Th... |
ORPHA:2166 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia |
OMIM:614813 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina |
ORPHA:457284 |
Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79444 |
Townes-Brocks Syndrome 2 |
|
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Anal atresia, Rectovaginal fist... |
OMIM:617466 |
Orofacial Cleft 15 |
|
Cryptorchidism, Bilateral cleft palate |
OMIM:616788 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hypospadias, Cryptorchidism |
OMIM:601499 |
Rhombencephalosynapsis |
|
Abnormality of the uterus, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, ... |
ORPHA:59315 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Bifid scrotum, Supernumerary nipple |
ORPHA:217346 |
Lymphatic Filariasis |
|
Urethral obstruction, Abnormal scrotum morphology, Orchitis, Hematuria, Proteinuria, Vaginal hydr... |
ORPHA:2035 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, High, narrow palate, Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of th... |
ORPHA:96092 |
Autosomal Recessive Omodysplasia |
|
Cryptorchidism |
ORPHA:93329 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Thick eyebrow, White forelock, Aplasia of the vagina, White eyebrow, W... |
OMIM:193500 |
Fetal Akinesia Deformation Sequence |
|
Cleft palate, Cryptorchidism, Intestinal hypoplasia |
ORPHA:994 |
Leprechaunism |
|
Clitoral hypertrophy, Long penis, Central hypothyroidism, Nephrocalcinosis, Failure to thrive, Ov... |
ORPHA:508 |
Acrocardiofacial Syndrome |
|
Cryptorchidism, Anal atresia, Hyperthyroidism, Hypoplasia of penis, Hypospadias, Cleft palate |
ORPHA:2008 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... |
ORPHA:96191 |
Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
Noonan Syndrome 6 |
|
Cryptorchidism |
OMIM:613224 |
Filippi Syndrome |
|
Cryptorchidism, Supernumerary nipple |
ORPHA:3255 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Pancreatic lymphangiectasis, Cryptorchidism, Thyroid lymphangiectasia... |
OMIM:235255 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Hypothyroidism, Micropenis, Ectopic ... |
OMIM:616541 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Hypothyroidism, Urete... |
ORPHA:96169 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Microphallus, Median cleft palate, Cryptorchidism, Ambiguous genitalia, Adrenal hy... |
OMIM:612651 |
Marden-Walker Syndrome |
|
High, narrow palate, Renal hypoplasia, Cryptorchidism, Micropenis, High palate, Hypospadias, Clef... |
OMIM:248700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism |
OMIM:301039 |
Macs Syndrome |
|
High palate, Cryptorchidism, Hypergonadotropic hypogonadism, Urethral stenosis |
OMIM:613075 |
Wolfram Syndrome |
|
Nephropathy, Male hypogonadism, Hypogonadism, Dysuria, Delayed puberty, Diabetes insipidus, Diabe... |
ORPHA:3463 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Micropenis, Small scrotum, High palate, Cryptorchidism |
ORPHA:98905 |
Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Hyperinsulinemia, Obesity |
OMIM:618406 |
Pallister-Hall Syndrome |
|
Precocious puberty, Renal hypoplasia, Microglossia, Hydroureter, Anteriorly placed anus, Decrease... |
OMIM:146510 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Obesity |
ORPHA:163681 |
Cohen Syndrome |
|
Failure to thrive in infancy, Obesity, Long eyelashes, Thick eyebrow, Cryptorchidism, Low anterio... |
ORPHA:193 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Overgrowth, Hydrocele testis, Enlarged kidney |
ORPHA:276280 |
Baraitser-Winter Syndrome 1 |
|
Micropenis, Cryptorchidism |
OMIM:243310 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Narrow palate, Hydronephrosis, Cryptorchidism |
ORPHA:364028 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... |
ORPHA:249 |
Penile Agenesis |
|
Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Cryptorchidism, Hydronephro... |
ORPHA:49 |
Chops Syndrome |
|
Coarse hair, Horseshoe kidney, Obesity, Long eyelashes, Vesicoureteral reflux, Cryptorchidism, Th... |
OMIM:616368 |
Kapur-Toriello Syndrome |
|
Intestinal malrotation, Cryptorchidism, Hypoplastic labia majora, Micropenis, Cleft palate |
OMIM:244300 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Micropenis, High palate, Cryptorchidism, Supernumerary nipple |
OMIM:618929 |
Arthrogryposis, Distal, Type 12 |
|
High palate, Hydrocele testis, Cryptorchidism |
OMIM:620545 |
Hypomandibular Faciocranial Dysostosis |
|
Abnormal morphology of female internal genitalia |
ORPHA:1790 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Micropenis |
OMIM:619951 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Hypospadias, Cryptorchidism |
ORPHA:494344 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Vesicoureteral reflux, Cryptorchidism, Hydr... |
ORPHA:2059 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Cryptorchidism |
OMIM:608093 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... |
OMIM:151660 |
Arthrogryposis, Distal, Type 3 |
|
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, High palate, Cleft palate |
OMIM:114300 |
Cloacal Exstrophy |
|
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... |
ORPHA:93929 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... |
ORPHA:226313 |
Mosaic Trisomy 9 |
|
Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Intestinal ma... |
ORPHA:99776 |
Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Microphallus, Decreased response to growth hormone stimulation test, Vesicouret... |
OMIM:603467 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Elevated circulating thyroid-stimulating hormone concentration, Decreased circu... |
ORPHA:94086 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Cryptorchidism, Submucous cleft soft palate, Male pseudohermaphroditism, Shawl... |
ORPHA:2282 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Protruding tongue, Cryptorchidism, Cleft palate |
OMIM:612938 |
Acromelic Frontonasal Dysplasia |
|
Hypopituitarism, Median cleft palate, Cryptorchidism, Anterior pituitary hypoplasia |
ORPHA:1827 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Alopecia, Sparse eyebrow, Bilateral cryptorchidism, Large for gestational age, Sparse eyelashes, ... |
ORPHA:544488 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Submucous cleft hard palate, Unilateral ... |
OMIM:619103 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Micropenis, Cryptorchidism |
OMIM:619847 |
Martsolf Syndrome 1 |
|
Micropenis, Hypogonadotropic hypogonadism, High palate, Cryptorchidism |
OMIM:212720 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Obesity, Hydronephrosis |
OMIM:619269 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism |
OMIM:300578 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hypogonadism, Small scrotum, Abnormality of the ureter, Bilateral cleft palate |
ORPHA:3253 |
Perlman Syndrome |
|
Large for gestational age, Renal hamartoma, Cryptorchidism, Pancreatic islet-cell hyperplasia |
OMIM:267000 |
Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Intestinal obstruction, Aganglionic megaco... |
ORPHA:3440 |
Pontocerebellar Hypoplasia, Type 7 |
|
Micropenis, High palate, Ambiguous genitalia, Cryptorchidism |
OMIM:614969 |
Cimdag Syndrome |
|
Hypogonadism, Cholelithiasis |
OMIM:619273 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Unilateral renal agenesis, Rectovaginal fistula, Anteriorly placed anus |
OMIM:608980 |
Kabuki Syndrome |
|
Precocious puberty, Highly arched eyebrow, Failure to thrive, Sparse lateral eyebrow, Crossed fus... |
ORPHA:2322 |
Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Central hypothyroidism, Bilateral cryptorchidism, Decreased testicular size, Cryptorchidism, Hypo... |
OMIM:300998 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Volvulus, Horseshoe kidney, Pyelonephritis, Vesicoureteral reflux, C... |
OMIM:301111 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Ankyloglossia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Ectopic anus... |
ORPHA:2745 |
Ritscher-Schinzel Syndrome 4 |
|
Micropenis, Narrow palate, High palate, Cryptorchidism |
OMIM:619435 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Small scrotum, Hypogonadism, Cryptorchidism, High palate, Absence of labia majora, Hypoplasia of ... |
ORPHA:2990 |
Crane-Heise Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Cleft palate |
ORPHA:1512 |
Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Small for gestational age, Failure to thrive, Fair hair, Septate vagina, Fr... |
OMIM:243800 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Proximal tubulopathy, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypopa... |
ORPHA:231222 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Septate vagina, Thick eyebrow, Cryptorchidism, Laterally curved eyebrow, D... |
OMIM:300166 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Perineal hypospadias |
OMIM:312830 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Premature adrenarche, Precocious puberty, High, narrow palate, Decreased response to growth hormo... |
ORPHA:96182 |
Fanconi Anemia, Complementation Group P |
|
Horseshoe kidney, Pelvic kidney, Cryptorchidism |
OMIM:613951 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus, Bifid uvula, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Furro... |
ORPHA:201 |
Cushing Disease |
|
Abnormal libido, Secondary amenorrhea, Increased circulating cortisol level, Increased urinary co... |
ORPHA:96253 |
Renal Agenesis, Bilateral |
|
Abnormal morphology of female internal genitalia |
ORPHA:1848 |
Angelman Syndrome |
|
Delayed menarche, Obesity, Precocious puberty in females, Fair hair |
ORPHA:72 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Cryptorchidism |
ORPHA:3304 |
X-Linked Mandibulofacial Dysostosis |
|
High palate, Cryptorchidism |
ORPHA:1131 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Prominent scrotal raphe, Narrow palate, Cl... |
ORPHA:1555 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis, Cryptorchidism |
OMIM:620327 |
Seckel Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, High palate, Hypospadias, Cleft palate |
OMIM:210600 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational... |
ORPHA:79644 |
Opitz Gbbb Syndrome |
|
Rectourethral fistula, Vesicoureteral reflux, Cryptorchidism, Anal atresia, Cleft palate, Micrope... |
OMIM:300000 |
Fanconi Anemia, Complementation Group C |
|
Horseshoe kidney, Cryptorchidism, Prolonged G2 phase of cell cycle, Ectopic kidney, Hypergonadotr... |
OMIM:227645 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormality of the male genitalia, Volvulus, Cryptorchidism, Hydronephrosis, Aganglionic megacolo... |
ORPHA:847 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Highly arched eyebrow, Supernumerary nipple, Obesity, Vesicoureteral reflux, Cryptorchidism, Hydr... |
OMIM:618653 |
Ciliary Dyskinesia, Primary, 18 |
|
Immotile sperm, Male infertility |
OMIM:614874 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Central hypothyroidism, Failure to thrive in infancy, Abnormality of the ureter... |
ORPHA:798 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
High, narrow palate, Small scrotum, Cryptorchidism |
ORPHA:1968 |
Meier-Gorlin Syndrome 4 |
|
Breast hypoplasia, Cryptorchidism |
OMIM:613804 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Adrenoc... |
OMIM:130650 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Unilateral renal agenesis, Central hypothyroidism, Anteriorly placed... |
OMIM:620305 |
Genitopatellar Syndrome |
|
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis |
ORPHA:85201 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Decreased testicular size, Furrowed tongue, Cryptorchidism, Micropenis, High palate |
OMIM:300534 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cryptorchidism, Shawl scrotum, Micropenis, Hypospadias, Cleft palate |
OMIM:600460 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
High palate, Cryptorchidism |
OMIM:619244 |
Bloom Syndrome |
|
Azoospermia, Sparse eyelashes, Patchy alopecia, Oligozoospermia, Abdominal obesity, Premature ova... |
ORPHA:125 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis, Intestinal malrotation, Cryptorchidism, Cleft palate |
ORPHA:457193 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Congenital hypoparathyroidism, Abnormal circulating follicle-stimulati... |
ORPHA:93325 |
Alagille Syndrome |
|
Abnormality of the ureter, Nephrotic syndrome, Delayed puberty, Cryptorchidism |
ORPHA:52 |
Xeroderma Pigmentosum, Complementation Group B |
|
Hypogonadism |
OMIM:610651 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Malrotation of small bowel, Cryptorchidism, Aplasia of the uterus, Hypospadia... |
OMIM:194190 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism |
OMIM:224410 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hypospadias... |
ORPHA:2658 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Cryptorchidism |
OMIM:602471 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
Cog5-Cdg |
|
Urinary incontinence, Cryptorchidism, Neurogenic bladder, Micropenis, High palate |
ORPHA:263487 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst |
ORPHA:454840 |
Stolerman Neurodevelopmental Syndrome |
|
Bifid uvula, Hypoplastic nipples, Cryptorchidism |
OMIM:618505 |
Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Cryptorchidism |
ORPHA:1786 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Hypospadias, Cryptorchidism, Bifid scrotum |
OMIM:613026 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Micropenis, Small scrotum, Hypospadias, Cryptorchidism |
OMIM:607143 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Failure to thrive, Abnormality of the ureter, Hypospadias, Epispadias |
ORPHA:3339 |
Alström Syndrome |
|
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ... |
ORPHA:64 |
Ogden Syndrome |
|
High, narrow palate, Cryptorchidism |
ORPHA:276432 |
Hatipoglu Immunodeficiency Syndrome |
|
Hypospadias, Cryptorchidism |
OMIM:620331 |
Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79443 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Crypto... |
ORPHA:2241 |
Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Esophageal atresia, Anterior pituitary hypoplasia,... |
OMIM:206900 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:613807 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Hydronephrosis, Micropenis, Duodenal atresia |
OMIM:617798 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Renal cyst, Ambiguous genitalia, Mic... |
OMIM:257300 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Horseshoe kidney, Cryptorchidism, Prolonged G2 phase of cell cycle, Tracheoesop... |
OMIM:227646 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Ureteral duplication, Hydrocele... |
OMIM:614080 |
Distal Deletion 12Q |
|
Annular pancreas, Maturity-onset diabetes of the young, Pituitary adenoma, Fine hair, Failure to ... |
ORPHA:96149 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Cryptorchidism, Midgut malrotation, Micropenis, Cleft palate, Pyloric stenosis |
OMIM:263750 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... |
OMIM:609734 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism |
ORPHA:96097 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Abnormal large intestine morphology, Cryptorchidism, Anal atresia, High pa... |
ORPHA:93932 |
Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism |
OMIM:619135 |
Cystinosis, Nephropathic |
|
Hematuria, Weight loss, Male infertility, Aminoaciduria, Generalized aminoaciduria, Male hypogona... |
OMIM:219800 |
Meier-Gorlin Syndrome 5 |
|
Micropenis, Cryptorchidism, Submucous cleft hard palate |
OMIM:613805 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Bladder diverticulum, Increased circulating androgen concentration, Diabete... |
ORPHA:2976 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the uvula, Cryptorchidism, High palate, Anal atresia, Hypospadias, Decrease... |
ORPHA:84 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Prote... |
ORPHA:263455 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Penoscrotal transposition, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Anal atresia, H... |
OMIM:619148 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, High, narrow palate, Clitoral hypertrophy, Cryptorchidism, Protruding tongue, Hydr... |
OMIM:214100 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Bifid scrotum, Shawl scrotum, Hypospadias, Epispadias |
ORPHA:2211 |
Developmental And Epileptic Encephalopathy 111 |
|
Cryptorchidism, Nephrolithiasis |
OMIM:620504 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Protruding tongue, Cryptorchidism, High palate |
OMIM:300963 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Sparse eyebrow, Supernumerary nipple, Abnormal reproductive system morphology, Low posterior hair... |
ORPHA:1521 |
Deeah Syndrome |
|
Narrow palate, Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptor... |
OMIM:619004 |
Walker-Warburg Syndrome |
|
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Hypoplasia of penis, Cleft palate |
ORPHA:899 |
Baller-Gerold Syndrome |
|
Bifid uvula, Anteriorly placed anus, Perineal fistula, High palate, Anal atresia, Rectovaginal fi... |
OMIM:218600 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Horseshoe kidney, Vesicoureteral reflux, Aplasia of the uterus, Ureteral dup... |
OMIM:274000 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Narrow palate, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples... |
OMIM:276820 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Ovarian fibroma, Cryptorchidism |
ORPHA:377 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Hydr... |
OMIM:135900 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Horseshoe kidney, Bifid ureter, Renal insufficiency,... |
OMIM:617641 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Renal hypoplasia, Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasi... |
ORPHA:264200 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cryptorchidism, Cleft palate, Supernumerary nipple |
OMIM:612530 |
Recombinant 8 Syndrome |
|
Small scrotum, Cryptorchidism, Abnormality of the anus, Hypoplastic male external genitalia, Clef... |
ORPHA:96167 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:90308 |
Trisomy 18 |
|
Hydronephrosis, Cachexia, Cryptorchidism, Abnormal morphology of female internal genitalia |
ORPHA:3380 |
20Q11.2 Microduplication Syndrome |
|
Micropenis, Cryptorchidism, Bifid scrotum |
ORPHA:363659 |
Microphthalmia, Lenz Type |
|
Hydronephrosis, Hypospadias, Cryptorchidism, Hydroureter |
ORPHA:568 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Bifid scrotum, Facial hirsutism, Large for gestational age, Cryptorchi... |
OMIM:229850 |
Cystic Fibrosis |
|
Decreased body mass index, Absent vas deferens, Failure to thrive, Nephrolithiasis, Male infertility |
ORPHA:586 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Cryptorchidism, Decreased serum insulin-like growth factor 1, Micro... |
ORPHA:1596 |
Hartsfield Syndrome |
|
Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus, Hypospadias, Cleft palate |
OMIM:615465 |
Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypoplastic labia majora, ... |
OMIM:616835 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Intestinal malrotation, Cryptorchidism, Anal atresia, High palate, Hypospadias |
OMIM:617602 |
Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Cleft palate |
OMIM:619123 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cryptorchidism, High palate |
ORPHA:284160 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Clitoral hypertrophy, Breast hypoplasia, Hypoplastic labia minora, Cryptorchidism,... |
OMIM:613803 |
C Syndrome |
|
Clitoral hypertrophy, Renal cortical cysts, Cryptorchidism, High palate |
OMIM:211750 |
Cockayne Syndrome Type 1 |
|
Proteinuria, Male hypogonadism, Renal insufficiency, Cryptorchidism |
ORPHA:90321 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity, Hirsutism, Cryptorchidism, Synophrys |
OMIM:616078 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Renal insufficiency |
ORPHA:890 |
Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Bifid uvula, Clitoral hypertrophy, Breast aplasia, Hypoplastic labia minora,... |
ORPHA:2554 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Cryptorchidism, Epispadias |
OMIM:225500 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteriorly placed anus, Hypospadias, Cryptorchidism, Cleft palate |
OMIM:217980 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, Hypoparathyroidism, Cl... |
OMIM:192430 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Micropenis, High palate, Cryptorchidism, Cleft palate |
OMIM:614230 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Small scrotum, Breast hypoplasia, Cryptorchidism, Shawl scrotum, Cleft palate |
OMIM:601353 |
Alg12-Cdg |
|
Intestinal malrotation, Cryptorchidism, Decreased serum insulin-like growth factor 1, Micropenis,... |
ORPHA:79324 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Micropenis, Cleft soft palate, Cryptorchidism, Cleft palate |
OMIM:616331 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Hiatus hernia, Shawl scrotum, Micropenis, High palate |
OMIM:300895 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Protein-losing enteropathy, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux,... |
OMIM:235510 |
Encephalocraniocutaneous Lipomatosis |
|
Hydronephrosis, Pelvic kidney, Cryptorchidism |
OMIM:613001 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, High palate, Cl... |
ORPHA:96061 |
Van Maldergem Syndrome 2 |
|
Renal hypoplasia, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Hypoplastic nipples, Mic... |
OMIM:615546 |
Meier-Gorlin Syndrome 7 |
|
Clitoral hypertrophy, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, V... |
OMIM:617063 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Renal insufficiency, Cryptorchidism, Hyperuricosuria, Uric acid nephrolithiasis, Hi... |
OMIM:300661 |
Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
White-Kernohan Syndrome |
|
Hydroureter, Horizontal eyebrow, Horseshoe kidney, Obesity, Long eyelashes, Broad medial eyebrow,... |
OMIM:619426 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Volvulus, Intestinal malrotation, Cryptorchidism, Proteinuria, Hiatus hernia |
OMIM:616682 |
Vacterl With Hydrocephalus |
|
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Abnormal fallopian tube morphology... |
ORPHA:3412 |
Townes-Brocks Syndrome |
|
Renal hypoplasia, Urethral valve, Abnormal vagina morphology, Abnormality of the uterus, Bifid sc... |
ORPHA:857 |
Noonan Syndrome 1 |
|
Hypogonadism, Failure to thrive in infancy, Cryptorchidism, Low posterior hairline, Woolly hair, ... |
OMIM:163950 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Clitoral hypertrophy, Failure to thrive, Male pseudohermaphroditism, A... |
ORPHA:2556 |
Floating-Harbor Syndrome |
|
Precocious puberty, Varicocele, Nephrocalcinosis, Stage 5 chronic kidney disease, Cryptorchidism,... |
ORPHA:2044 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Failure to thrive, Large for gestational age, Long eyelashes, Cryptorchidism, ... |
OMIM:607721 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Cryptorchidism, Protruding tongue, Hydronephrosis, Shawl scrotum, Micropenis, Macroglossia, Hypos... |
OMIM:301040 |
Smith-Magenis Syndrome |
|
Increased body weight, Abnormality of the thyroid gland, Synophrys |
OMIM:182290 |
1P36 Deletion Syndrome |
|
Annular pancreas, Failure to thrive, Horizontal eyebrow, Abnormal female external genitalia morph... |
ORPHA:1606 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cryptorchidism, Pyloric stenosis |
OMIM:614438 |
Somatomammotropinoma |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
ORPHA:314769 |
Larsen Syndrome |
|
Cryptorchidism, Cleft palate |
ORPHA:503 |
Lateral Meningocele Syndrome |
|
High, narrow palate, High palate, Cryptorchidism |
ORPHA:2789 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Cleft palate |
ORPHA:1865 |
Charge Syndrome |
|
Highly arched eyebrow, Bifid scrotum, Abnormal morphology of female internal genitalia, Horseshoe... |
ORPHA:138 |
Treacher-Collins Syndrome |
|
Small scrotum, Cryptorchidism, Glossoptosis, Hypoplasia of the thymus, Abnormality of the adrenal... |
ORPHA:861 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria |
OMIM:614052 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity, Bilateral breast hypoplasia, Primary amenorrhea |
ORPHA:319675 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bifid uvula, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Hypothyroidi... |
ORPHA:453499 |
Floating-Harbor Syndrome |
|
Varicocele, Nephrocalcinosis, Glandular hypospadias, Long eyelashes, Cryptorchidism, Hirsutism, H... |
OMIM:136140 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Duodenal atresia, Cryptorchidism, Hydronephrosis, Renal c... |
ORPHA:464311 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Hamartoma of tongue, Cryptorchidism, Renal cyst, Ambiguous genitalia, Bifid ton... |
OMIM:616300 |
Tbck-Related Intellectual Disability Syndrome |
|
High, narrow palate, Decreased response to growth hormone stimulation test, Central adrenal insuf... |
ORPHA:488632 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism |
ORPHA:2378 |
3Mc Syndrome 2 |
|
Horseshoe kidney, Cryptorchidism, High palate, Hypospadias, Cleft palate |
OMIM:265050 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Renal hypoplasia, Hypogonadism, Decreased testicular size, Obesity, Vesicoureteral... |
OMIM:309580 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Micropenis, Small scrotum, Esophagitis, Cryptorchidism |
ORPHA:495818 |
Norrie Disease |
|
Uterine rupture, Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfuncti... |
ORPHA:649 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Cryptorchidism, Adrenocortical hypoplasia, Increased urinary glycerol |
OMIM:307030 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Chordee, Cryptorchidism, Supernumerary nipple |
OMIM:616728 |
Coccidioidomycosis |
|
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the endocrine syst... |
ORPHA:228123 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Breast hypoplasia, Cryptorchidism, Hydronephrosis, Renal cyst, Anterio... |
ORPHA:464306 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cryptorchidism, Long uvula, High palate, Narrow palate, Diabetes mellitus |
ORPHA:536532 |
Cornelia De Lange Syndrome 1 |
|
High, narrow palate, Renal hypoplasia, Hypoplastic male external genitalia, Reduced renal cortico... |
OMIM:122470 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Anteriorly placed anus, Hypogonadism, Cryptorchidism, High palate |
OMIM:268400 |
Craniofrontonasal Syndrome |
|
Breast hypoplasia, Cryptorchidism, Unilateral breast hypoplasia, Shawl scrotum, Hypospadias, Clef... |
OMIM:304110 |
Hamamy Syndrome |
|
Hypoparathyroidism, High palate, Cryptorchidism |
OMIM:611174 |
16P13.11 Microdeletion Syndrome |
|
Cryptorchidism, Cleft palate |
ORPHA:261236 |
Digeorge Syndrome |
|
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Obesity, Renal insufficiency, ... |
OMIM:188400 |
Dubowitz Syndrome |
|
Anal stenosis, Abnormal female external genitalia morphology, Cryptorchidism, Submucous cleft har... |
ORPHA:235 |
Say-Barber-Miller Syndrome |
|
Hypogonadism, High palate, Cryptorchidism |
ORPHA:3132 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypogonadism, Aganglionic megacolon, Microcolon, Ileus |
ORPHA:163746 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Oral leukoplakia, Cryptorchidism, Urethral stricture, Esophageal stricture, Urethral stenosis |
OMIM:613990 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Abnormal morphology of female internal genitalia, Hematuria, Renal angiom... |
ORPHA:538 |
Meckel Syndrome, Type 1 |
|
Abnormality of the uterus, Intestinal malrotation, Ambiguous genitalia, female, External genital ... |
OMIM:249000 |
Meckel Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, ... |
ORPHA:564 |
Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Cryptorchidism |
OMIM:613834 |
Nablus Mask-Like Facial Syndrome |
|
Cryptorchidism, Hypoplastic nipples, Labial hypoplasia, Micropenis, High palate |
OMIM:608156 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Clitoral hypertrophy, Renal hypoplasia, Enlarged labia minora, Cryptor... |
ORPHA:3404 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Horseshoe kidney, Penile hypospadias, Cryptorchidism, High palate, Hypospadias, Congenital poster... |
OMIM:620083 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Anal stenosis, Bifid scrotum, Ren... |
OMIM:107480 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflux, Crypt... |
OMIM:618454 |
1Q21.1 Microdeletion Syndrome |
|
Ankyloglossia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, High palate |
ORPHA:250989 |
Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Alopecia, Long eyelashes, Hypoplastic labia minora, Curly eyelashes, C... |
ORPHA:3107 |
Distal Deletion 3P |
|
High palate, Cryptorchidism, Cleft palate |
ORPHA:1620 |
Cerebellofaciodental Syndrome |
|
Cryptorchidism |
OMIM:616202 |
Atypical Werner Syndrome |
|
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... |
ORPHA:79474 |
Native American Myopathy |
|
Bifid uvula, Cryptorchidism, Submucous cleft soft palate, High palate, Cleft palate |
ORPHA:168572 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microglossia, Anteriorly placed anus, Cryptorchidism, Chordee, Anterior pituitary hypoplasia, Hyp... |
OMIM:151050 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula |
OMIM:618748 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Bifid uvula, Ectopic thyroid, Cryptorchidism, Submucous cleft hard palate, Thyroid agenesis, Hypo... |
ORPHA:3047 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Anteriorly placed anus, Clitoral hypoplasia, Vesicoureteral reflux, Cryptorchidism, Micropenis, B... |
OMIM:616894 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micropenis, High palate, Cryptorchidism |
OMIM:619005 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hypogonadism, Bilateral cryptorchidism |
ORPHA:3042 |
Xeroderma Pigmentosum |
|
Hypogonadism, Decreased testicular size, Cryptorchidism, Aminoaciduria |
ORPHA:910 |
Kabuki Syndrome 1 |
|
Anal stenosis, Anoperineal fistula, Intestinal malrotation, Congenital hypothyroidism, Crossed fu... |
OMIM:147920 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Bilateral cryptorchidism, Hydrometrocolpos, Thick eyebrow, Alopecia of scalp, Vesicoureteral refl... |
OMIM:150230 |
Distal Duplication 17Q |
|
High palate, Vesicoureteral reflux, Cryptorchidism, Cleft palate |
ORPHA:3379 |
Mowat-Wilson Syndrome |
|
Webbed penis, Urinary incontinence, Multicystic kidney dysplasia, Horizontal eyebrow, Bifid scrot... |
ORPHA:2152 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Cryptorchidism, Shawl scrotum, High palate, Narrow palate, Pollakisuria |
OMIM:227330 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Unilateral renal agenesis, Decreased response to growth hormone stimulation test, Breast aplasia,... |
ORPHA:268261 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, Cryptorchidism |
ORPHA:2673 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Abnormal pancreas morphology, Tall stature, Adrenocortical cytomegaly, Obesity, Vesi... |
ORPHA:116 |
Noonan Syndrome With Multiple Lentigines |
|
Decreased fertility, Hypospadias, Cryptorchidism |
ORPHA:500 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Hydronephrosis, Hypospadias, Cleft palate |
OMIM:300712 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cryptorchidism, Ureteral stenosis |
ORPHA:2719 |
Meier-Gorlin Syndrome 1 |
|
Clitoral hypertrophy, Breast hypoplasia, Cryptorchidism, Hypoplastic labia majora, Shawl scrotum,... |
OMIM:224690 |
Chromosome 15Q25 Deletion Syndrome |
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Dilatation of renal calices, Cryptorchidism, Cleft palate |
OMIM:614294 |
Faundes-Banka Syndrome |
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Premature thelarche, Delayed puberty, Cryptorchidism, Cleft palate |
OMIM:619376 |
6Q Terminal Deletion Syndrome |
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Highly arched eyebrow, Failure to thrive, Obesity, Phimosis, Low anterior hairline, Hypospadias |
ORPHA:75857 |
Jacobsen Syndrome |
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Annular pancreas, Cryptorchidism, Labial hypoplasia, Hypospadias, Clitoral hypoplasia, Pyloric st... |
OMIM:147791 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Webbed penis, Urinary incontinence, Multicystic kidney dysplasia, Failure to thrive, Bifid scrotu... |
ORPHA:261537 |
Rothmund-Thomson Syndrome Type 1 |
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Hypogonadism, Premature ovarian insufficiency, Hypothyroidism, Cryptorchidism |
ORPHA:221008 |
Frontometaphyseal Dysplasia 2 |
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Bifid uvula, Cryptorchidism, Neurogenic bladder, Delayed puberty, High palate, Ulcerative colitis... |
OMIM:617137 |
Genitopatellar Syndrome |
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Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Anal stenosis, Malrotation of ... |
OMIM:606170 |
Hallermann-Streiff Syndrome |
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High, narrow palate, Hypothyroidism, Cryptorchidism, Glossoptosis |
ORPHA:2108 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Sparse eyebrow, Slender build, Large for gestational age, Overgrowth, Broad eyebrow, Micropenis, ... |
ORPHA:457359 |
Marden-Walker Syndrome |
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Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Hydronep... |
ORPHA:2461 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Unilateral renal agenesis, Cryptorchidism |
OMIM:620024 |
Wiedemann-Rautenstrauch Syndrome |
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Failure to thrive, Increased circulating prolactin concentration, Decreased response to growth ho... |
ORPHA:3455 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Chordee, Hypospadias, Cryptorchidism, Supernumerary nipple |
ORPHA:477993 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Cryptorchidism, Hydronephrosis, Hypoplasia of the thymus, Perianal abscess, High palate, Cleft pa... |
OMIM:612541 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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High, narrow palate, Cryptorchidism |
ORPHA:1101 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Absent gallbladder, Cryptorchidism, Hydronephrosis, Micropenis, Hypospadias, Cleft palate |
ORPHA:163979 |
Congenital Myopathy 13 |
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High palate, Cryptorchidism, Cleft palate |
OMIM:255995 |
Cockayne Syndrome A |
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Irregular menstruation, Hypogonadism, Renal insufficiency, Cryptorchidism, Thymic hormone decreas... |
OMIM:216400 |
Noonan Syndrome 10 |
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High palate, Cryptorchidism |
OMIM:616564 |
Diets-Jongmans Syndrome |
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Hypospadias, Cryptorchidism, Duodenal atresia |
OMIM:618846 |
Craniolenticulosutural Dysplasia |
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Bifid uvula, High palate, Cryptorchidism, Cleft palate |
OMIM:607812 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Renal hypoplasia, Uterus didelphys, Cryptorchidism, Hydronephrosis, Renal cyst, Ectopic anus, Amb... |
ORPHA:93271 |
Cornelia De Lange Syndrome |
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Multicystic kidney dysplasia, Volvulus, Abnormality of the uterus, Intestinal malrotation, Renal ... |
ORPHA:199 |
Coffin-Siris Syndrome |
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Horseshoe kidney, Hypospadias, Cryptorchidism, Papillary thyroid carcinoma |
ORPHA:1465 |
Barber-Say Syndrome |
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Absent nipple, Velopharyngeal insufficiency, Cryptorchidism, Hypoplastic nipples, Hypoplastic lab... |
OMIM:209885 |
Hydrolethalus Syndrome 1 |
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Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgenesis, Bifid uterus, Hypospadias |
OMIM:236680 |
Wiedemann-Rautenstrauch Syndrome |
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Sparse eyebrow, Long penis, Alopecia, Failure to thrive, Alopecia of scalp, Cryptorchidism, Spars... |
OMIM:264090 |
Codas Syndrome |
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Anal atresia, Rectovaginal fistula, Cryptorchidism |
OMIM:600373 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Webbed penis, Urinary incontinence, Multicystic kidney dysplasia, Highly arched eyebrow, Duplicat... |
ORPHA:261552 |
Ring Chromosome 7 Syndrome |
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Bifid uvula, Hypogonadism, Median cleft palate, Hydrocele testis, Hypospadias, Cleft palate |
ORPHA:1449 |
Monosomy 9P |
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Ureteropelvic junction obstruction, Cryptorchidism, Ambiguous genitalia, High palate, Hypospadias... |
ORPHA:261112 |
Roberts Syndrome |
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Clitoral hypertrophy, Long penis, Cryptorchidism, High palate, Polycystic kidney dysplasia, Cleft... |
ORPHA:3103 |
Specc1L-Related Hypertelorism Syndrome |
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Ectopic kidney, Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum |
ORPHA:1519 |
Poland Syndrome |
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Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Cryptorchidism, Hypospadias, Diabetes mellitus |
ORPHA:2911 |
Noonan Syndrome |
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Hypogonadotropic hypogonadism, High palate, Delayed menarche, Cryptorchidism |
ORPHA:648 |
Low Phospholipid-Associated Cholelithiasis |
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Cholelithiasis, Overweight, Diabetes mellitus, Obesity |
ORPHA:69663 |
Simpson-Golabi-Behmel Syndrome |
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High, narrow palate, Macroglossia, Multicystic kidney dysplasia, Hydroureter, Supernumerary nippl... |
ORPHA:373 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Bifid uvula, Abnormal circulating calcium-phosphate regulating hormone concentration, Hydroureter... |
ORPHA:2636 |
Tetrasomy 9P |
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Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infertility |
ORPHA:3310 |
Carpenter Syndrome 2 |
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Highly arched eyebrow, Sparse eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Obesity, C... |
OMIM:614976 |
Dyskeratosis Congenita, X-Linked |
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Oral leukoplakia, Horseshoe kidney, Decreased testicular size, Cryptorchidism, Phimosis, Anal muc... |
OMIM:305000 |
Toriello-Carey Syndrome |
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Anteriorly placed anus, Cryptorchidism, Aganglionic megacolon, High palate, Cleft palate |
ORPHA:3338 |
Microphthalmia, Syndromic 6 |
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Small scrotum, Abnormality of the hypothalamus-pituitary axis, Renal hypoplasia, Bifid uvula, Mic... |
OMIM:607932 |
Pallister-Killian Syndrome |
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Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Supernumerary nipple, Intestin... |
OMIM:601803 |
Chromosome 13Q14 Deletion Syndrome |
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Micropenis, High palate, Cryptorchidism, Supernumerary nipple |
OMIM:613884 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Renal hypoplasia, Hypothyroidism, Cryptorchidism |
OMIM:620005 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Small scrotum, Ureterocele, Cryptorchidism, Hypospadias, Cleft palate |
OMIM:616734 |
Double Outlet Left Ventricle |
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Cryptorchidism |
ORPHA:3427 |
22Q11.2 Deletion Syndrome |
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Cholelithiasis, Renal hypoplasia, Abnormality of the uterus, Intestinal malrotation, Vesicoureter... |
ORPHA:567 |
Mosaic Trisomy 20 |
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Horseshoe kidney, Cryptorchidism, Cleft palate |
ORPHA:1724 |
Hajdu-Cheney Syndrome |
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Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Polycystic kidney d... |
OMIM:102500 |
X-Linked Intellectual Disability, Armfield Type |
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Aminoaciduria, Galactosuria, Organic aciduria, Cryptorchidism, Cleft palate |
ORPHA:85276 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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High, narrow palate, Cryptorchidism, Submucous cleft soft palate, Pineal cyst, Delayed puberty |
OMIM:300967 |
Noonan Syndrome 3 |
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High palate, Cryptorchidism |
OMIM:609942 |
Gabriele-De Vries Syndrome |
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Decreased response to growth hormone stimulation test, Breast hypoplasia, Ureteropelvic junction ... |
ORPHA:506358 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Hypospadias, Delayed puberty, Cryptorchidism, Decreased testicular size |
ORPHA:459070 |
Schneckenbecken Dysplasia |
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Cryptorchidism, Cleft palate |
ORPHA:3144 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Precocious puberty, Increased circulating prolactin concentration, Vesicoureteral reflux, Cryptor... |
ORPHA:438213 |
Mend Syndrome |
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Crossed fused renal ectopia, Cryptorchidism, High palate |
OMIM:300960 |
Loeys-Dietz Syndrome |
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Tall stature, Uterine rupture |
ORPHA:60030 |
Acromelic Frontonasal Dysostosis |
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Hypopituitarism, Submucous cleft soft palate, Cryptorchidism, Cleft palate |
OMIM:603671 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Cleft palate, Cryptorchidism, Abnormal parotid gland morphology |
OMIM:154500 |
Charge Syndrome |
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Cryptorchidism, Hypoparathyroidism, Anal atresia, Duodenal atresia, Parathyroid hypoplasia, Aplas... |
OMIM:214800 |
Neurofibromatosis Type 1 |
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Precocious puberty, Pheochromocytoma, Cryptorchidism, Gastrointestinal stroma tumor, Delayed pube... |
ORPHA:636 |
C Syndrome |
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Multicystic kidney dysplasia, Horseshoe kidney, Female pseudohermaphroditism, Cryptorchidism, Abn... |
ORPHA:1308 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility |
OMIM:244400 |
Neurofibromatosis-Noonan Syndrome |
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Cryptorchidism |
OMIM:601321 |
Holoprosencephaly 9 |
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Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... |
OMIM:610829 |
Femoral-Facial Syndrome |
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Cryptorchidism, Hypoplastic labia majora, Maternal diabetes, Micropenis, Polycystic kidney dyspla... |
OMIM:134780 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Trichiasis, Vaginal strictu... |
ORPHA:95455 |
Ehlers-Danlos Syndrome, Vascular Type |
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Uterine rupture, Cystocele, Alopecia of scalp, Cryptorchidism, Uterine prolapse, Cervical insuffi... |
OMIM:130050 |
Orofaciodigital Syndrome Xiv |
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Anteriorly placed anus, Hamartoma of tongue, Unilateral renal hypoplasia, Cryptorchidism, Aplasia... |
OMIM:615948 |
African Trypanosomiasis |
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Abnormality of the menstrual cycle, Abnormality of circulating cortisol level, Abnormality of ren... |
ORPHA:3385 |
Tibial Hemimelia |
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Ambiguous genitalia, Hypospadias, Cryptorchidism, Cleft palate |
ORPHA:93322 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Hydronephrosis, Biliary hyperplasia, Micro... |
ORPHA:83617 |
Robinow Syndrome, Autosomal Dominant 1 |
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Narrow palate, Cryptorchidism, Hydronephrosis, Short hard palate, Hypoplastic labia majora, Micro... |
OMIM:180700 |
Wiskott-Aldrich Syndrome |
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Abnormality of the menstrual cycle, Hypoplasia of the thymus |
ORPHA:906 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Cryptorchidism |
OMIM:620025 |
Lacrimoauriculodentodigital Syndrome |
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Bifid uvula, Renal hypoplasia, Xerostomia, Abnormal salivary gland morphology, Vesicoureteral ref... |
ORPHA:2363 |
Lowe Oculocerebrorenal Syndrome |
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Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... |
OMIM:309000 |
Omodysplasia 1 |
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Cryptorchidism |
OMIM:258315 |
Primrose Syndrome |
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Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Delayed puberty, High palate, Diabetes ... |
OMIM:259050 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Mowat-Wilson Syndrome |
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Abnormal enteric ganglion morphology, Bifid scrotum, Supernumerary nipple, Cryptorchidism, Submuc... |
OMIM:235730 |
Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Long penis, Horseshoe kidney, Enlarged labia minora, Cryptorchidism, Polycy... |
OMIM:268300 |
Cystic Fibrosis |
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Hypercalciuria, Failure to thrive, Male infertility |
OMIM:219700 |
Hellp Syndrome |
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Hemoglobinuria, Proteinuria, Acute kidney injury, Increased body weight |
ORPHA:244242 |
Microphthalmia, Syndromic 1 |
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High, narrow palate, Renal hypoplasia, Hydroureter, Cryptorchidism, Aganglionic megacolon, Anal a... |
OMIM:309800 |