Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Intestinal malrotation |
OMIM:601163 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Reticulated skin pigmentation, Testicular atrophy, Nail dystrophy |
OMIM:613987 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Hepatocellular carcinom... |
OMIM:235200 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Nail dystrophy, Reticular hyperpigmentation |
OMIM:618165 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia |
OMIM:160900 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility... |
ORPHA:465508 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p... |
OMIM:305400 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Dysphagia, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Dysphagia |
OMIM:300322 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig cells, Testicul... |
ORPHA:3063 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Intestinal pseudo-obstr... |
ORPHA:273 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Death in childhood |
OMIM:620368 |
Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the stomach |
ORPHA:618 |
Tumor Predisposition Syndrome 3 |
|
|
OMIM:615848 |