Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... |
ORPHA:1646 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia, Microcephaly |
OMIM:241000 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility |
OMIM:617593 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Abnormality o... |
ORPHA:2183 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:261519 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Obesity |
OMIM:615703 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... |
OMIM:619177 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Leukoencephalopathy, Abnormal motor neuron morphology, Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Short stature, Infertility, Azoospermia, Holoprosencephaly, Microcephaly, Ame... |
ORPHA:1445 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Hydrocephalus, Azoospermia, Macrocephaly, Oli... |
ORPHA:8 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Ischemic stroke, Short stature, Decreased ... |
ORPHA:280679 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... |
ORPHA:432 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus |
ORPHA:2578 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Cerebellar hypoplasia, Hypogonadism, Postnatal growth reta... |
OMIM:616113 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Lissencephaly, Pachygyria, Micropenis, Agenesis of corpus callosum, Postnatal growth reta... |
OMIM:300067 |
48,Xyyy Syndrome |
|
Male hypogonadism, Primary gonadal insufficiency, Azoospermia |
ORPHA:99329 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ... |
OMIM:300845 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
48,Xxyy Syndrome |
|
Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hypoplasia of pen... |
ORPHA:10 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Ring Chromosome 22 Syndrome |
|
Azoospermia, Growth delay, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:1446 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
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 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Defective DNA repair after ultraviolet radiation damage, Growth delay,... |
OMIM:278780 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus |
OMIM:601076 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Growth delay, Hypogonadism |
OMIM:615234 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, Male infertility, Hyp... |
OMIM:227650 |
49,Xxxxy Syndrome |
|
Hypogonadism, Short stature, Decreased testicular size, Type II diabetes mellitus, Infertility, A... |
ORPHA:96264 |
8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Hypogonadism, Short stature, Azoospermia, Hypoplasia of penis, Growth d... |
ORPHA:251066 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... |
ORPHA:2232 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... |
ORPHA:361 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, Hypergonadotropic hyp... |
OMIM:600901 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... |
ORPHA:254516 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
48,Xxxy Syndrome |
|
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hyp... |
ORPHA:96263 |
Seckel Syndrome 6 |
|
Short stature, Primary microcephaly |
OMIM:614728 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Short stature, Small for gestational age, Hydrocephalus, Prolonged G2 p... |
OMIM:227646 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Fanconi Anemia, Complementation Group C |
|
Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, Hypergonadotropic hyp... |
OMIM:227645 |
Bloom Syndrome |
|
Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Azoospermia... |
OMIM:210900 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Growth delay, Abnormality of th... |
ORPHA:300298 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Silver-Russell Syndrome 3 |
|
Patent ductus arteriosus, Ambiguous genitalia, Decreased body weight, Short stature, Small for ge... |
OMIM:616489 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... |
ORPHA:754 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Hypogonadism, Testicular atrophy, Growth delay, Microcephaly |
OMIM:618165 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
H Syndrome |
|
Hypogonadism, Short stature, Decreased testicular size, Hydrocephalus, Azoospermia, Diabetes mell... |
ORPHA:168569 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Short stature, Aplasia/Hypoplasia involving the central nervous system, Mi... |
OMIM:278760 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Macrocephaly, Intrauterine growth retardat... |
OMIM:614732 |
De Sanctis-Cacchione Syndrome |
|
Global brain atrophy, Bilateral cryptorchidism, Severe short stature, Microcephaly, Basal ganglia... |
OMIM:278800 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cerebral atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Bloom Syndrome |
|
Decreased head circumference, Premature ovarian insufficiency, Small for gestational age, Azoospe... |
ORPHA:125 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Abnormality of the scrotum, Microphallus, Bifid scrotum, Small for gestational ag... |
ORPHA:397590 |
Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Fanconi Anemia |
|
Patent ductus arteriosus, Abnormal preputium morphology, Hypogonadism, Abnormal testis morphology... |
ORPHA:84 |
Aarskog-Scott Syndrome |
|
Short stature, Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentratio... |
OMIM:305400 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Failure to thrive, Severe short stature, Microcephaly,... |
OMIM:610965 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Classic Galactosemia |
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Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... |
ORPHA:79239 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Hypothyroidism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mell... |
ORPHA:465508 |
Ciliary Dyskinesia, Primary, 45 |
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Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Aromatase Deficiency |
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Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... |
ORPHA:91 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Cerebral calcification, Testicular atrophy, Growth delay |
OMIM:613987 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Pancreatic hypoplasia, Patent ductus arteriosus, Decreased response to growth hormone stimulation... |
OMIM:602782 |
Ciliary Dyskinesia, Primary, 34 |
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Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Wolfram Syndrome 1 |
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Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Growth delay, Cerebral... |
OMIM:222300 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Trichothiodystrophy |
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Cerebral cortical atrophy, Periventricular leukomalacia, Cerebral dysmyelination, Partial agenesi... |
ORPHA:33364 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Oligospermia, Cryptorchidism |
OMIM:314300 |
Ciliary Dyskinesia, Primary, 18 |
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Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 14 |
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Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 9 |
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Male infertility, Absent outer dynein arms |
OMIM:612444 |
Autosomal Dominant Cerebellar Ataxia |
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Azoospermia |
ORPHA:99 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Primary testicular failure, Hypogonadism, Abnormal testis morphology, Weight loss, Oligospermia, ... |
ORPHA:85450 |
Pituitary Dermoid And Epidermoid Cysts |
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Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
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Male infertility |
OMIM:300991 |
Late-Onset Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... |
ORPHA:556037 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cachexia, Azoospermia, Hydrocephalus, Delayed puberty, Growth delay, Hypoplasia of the corpus cal... |
ORPHA:2072 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
Microphthalmia, Syndromic 3 |
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Patent ductus arteriosus, Anterior pituitary hypoplasia, Short stature, Optic nerve hypoplasia, H... |
OMIM:206900 |
Woodhouse-Sakati Syndrome |
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Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Ciliary Dyskinesia, Primary, 19 |
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Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
Generalized Glucocorticoid Resistance Syndrome |
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Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility |
OMIM:618948 |
Oculocerebrorenal Syndrome Of Lowe |
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Diabetes insipidus, Hyperaldosteronism, Short stature, Azoospermia, Failure to thrive, Hyperparat... |
ORPHA:534 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Short stature |
OMIM:300322 |
Ataxia-Telangiectasia |
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Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, Short stature, Failure t... |
OMIM:208900 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
X-Linked Intellectual Disability, Snyder Type |
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Cerebral edema, Short stature, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, ... |
ORPHA:3063 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Absent outer dynein arms, Communicating hydrocephalus |
OMIM:244400 |
Carney Complex |
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Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... |
ORPHA:1359 |
Primary Ciliary Dyskinesia |
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Female infertility, Male infertility, Abnormal sperm motility, Hydrocephalus |
ORPHA:244 |
Diphallia |
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Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal fistula, Ectopi... |
ORPHA:227 |
Autosomal Recessive Primary Microcephaly |
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Hypoplasia of the frontal lobes, Short stature, Growth delay, Microcephaly, Pachygyria, Agenesis ... |
ORPHA:2512 |
Xeroderma Pigmentosum, Complementation Group A |
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Defective DNA repair after ultraviolet radiation damage, Microcephaly |
OMIM:278700 |
Steinert Myotonic Dystrophy |
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Decreased fertility, Hyperinsulinemia, Cerebral cortical atrophy, Decreased response to growth ho... |
ORPHA:273 |
Xeroderma Pigmentosum, Complementation Group D |
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Defective DNA repair after ultraviolet radiation damage, Microcephaly |
OMIM:278730 |
Cystinosis, Nephropathic |
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Hypohidrosis, Weight loss, Short stature, Cerebral calcification, Male hypogonadism, Diabetes mel... |
OMIM:219800 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Noonan Syndrome 1 |
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Patent ductus arteriosus, Hypogonadism, Short stature, Hypospadias, Male infertility, Cryptorchid... |
OMIM:163950 |
Xeroderma Pigmentosum, Complementation Group E |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Xeroderma Pigmentosum, Complementation Group C |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Cystic Fibrosis |
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Exocrine pancreatic insufficiency, Failure to thrive, Male infertility, Pancreatitis |
OMIM:219700 |