X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
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Macroorchidism |
ORPHA:85320 |
Spermatogenic Failure 57 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
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Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Testes, Rudimentary |
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Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Intellectual Developmental Disorder, X-Linked 14 |
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Macroorchidism |
OMIM:300062 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Partial Chromosome Y Deletion |
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Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
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Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 63 |
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Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Isochromosomy Yp |
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Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Intellectual Developmental Disorder, X-Linked 2 |
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Macroorchidism |
OMIM:300428 |
Familial Peripheral Male-Limited Precocious Puberty |
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Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Spastic Paraplegia-Precocious Puberty Syndrome |
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Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Mental retardation, x-linked, syndromic, Turner type |
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Macroorchidism |
OMIM:300706 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Isochromosomy Yq |
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Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Precocious Puberty, Male-Limited |
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Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Isolated Follicle Stimulating Hormone Deficiency |
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Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Testicular Regression Syndrome |
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Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Partington Syndrome |
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Macroorchidism |
ORPHA:94083 |
Spermatogenic Failure 28 |
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Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Functioning Gonadotropic Adenoma |
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Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Non-Functioning Pituitary Adenoma |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Premature Ovarian Failure 10 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Macroorchidism |
OMIM:300886 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
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Macroorchidism |
OMIM:300238 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Megalencephaly |
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Macroorchidism, Long penis |
ORPHA:2477 |
47,Xyy Syndrome |
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Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
17Q11.2 Microduplication Syndrome |
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Macroorchidism |
ORPHA:139474 |
Fragile X Syndrome |
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Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
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Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
X-Linked Intellectual Disability, Shashi Type |
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Macroorchidism |
ORPHA:85286 |
Atkin-Flaitz Syndrome |
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Macroorchidism |
ORPHA:1193 |
Intellectual Developmental Disorder, X-Linked 21 |
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Macroorchidism |
OMIM:300143 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... |
OMIM:229070 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Macroorchidism |
ORPHA:3077 |
Fragile X Syndrome |
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Macroorchidism |
ORPHA:908 |
Clark-Baraitser syndrome |
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Macroorchidism |
OMIM:300602 |
Mccune-Albright Syndrome |
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Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
Lujan-Fryns Syndrome |
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Macroorchidism |
ORPHA:776 |
Xp22.13P22.2 Duplication Syndrome |
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Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Polyembryoma |
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Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Macroorchidism, Male hypogonadism |
OMIM:300055 |
46,Xy Sex Reversal 10 |
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Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased circulating T4 concentration, Pituitary hypothyroidism, Macroorchidism, Reduced radioac... |
ORPHA:90674 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Macroorchidism |
ORPHA:324410 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Trisomy 20P |
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Macroorchidism, Cryptorchidism, Hypospadias |
ORPHA:261318 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Macroorchidism, Hypospadias |
OMIM:618874 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Macroorchidism |
OMIM:309520 |
Carney Complex |
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Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystadenoma, Precocious puberty, O... |
ORPHA:1359 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Precocious puberty, Macroorchidism |
OMIM:619950 |
Proteus Syndrome |
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Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Ovarian neoplas... |
ORPHA:744 |
Aspartylglucosaminuria |
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Macroorchidism |
ORPHA:93 |
Aspartylglucosaminuria |
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Macroorchidism |
OMIM:208400 |