Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Microcephaly, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Ring Chromosome Y Syndrome |
|
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... |
ORPHA:261529 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pit... |
ORPHA:2183 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Maternal Uniparental Disomy Of Chromosome X |
|
Short stature, Microcephaly, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gon... |
ORPHA:261519 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity |
OMIM:615703 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia, Leukoencephalopathy, Abnormal motor neuron morphology |
OMIM:613724 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Growth delay, Hypogonadism |
OMIM:615234 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Holoprosencephaly, Short stature, Microcephaly, Azoospermia, Diabetes in... |
ORPHA:1445 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level, Hydrocephalus, Macr... |
ORPHA:8 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
ORPHA:280679 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... |
ORPHA:432 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature |
ORPHA:2578 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Cerebellar hypoplasia, Hypogonadism, Postnatal growth retardation, Central hypothy... |
OMIM:616113 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hypoplasia of the olfactory bulb, Decreased serum testosterone concentration, Micropenis, Decreas... |
OMIM:614897 |
Bone Marrow Failure Syndrome 5 |
|
Microcephaly, Testicular atrophy, Short stature, Hypogonadism |
OMIM:618165 |
Lissencephaly, X-Linked, 1 |
|
Micropenis, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesis of corpus c... |
OMIM:300067 |
48,Xyyy Syndrome |
|
Azoospermia, Male hypogonadism, Primary gonadal insufficiency |
ORPHA:99329 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
OMIM:300845 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... |
ORPHA:10 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Ring Chromosome 22 Syndrome |
|
Growth delay, Absent septum pellucidum, Microcephaly, Azoospermia, Agenesis of corpus callosum |
ORPHA:1446 |
Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Patent ductus arteriosus, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
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 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Decreased body weight, External genital hypoplasia, Short stature, Microcephaly, Postnatal growth... |
OMIM:612947 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Defective DNA repair after ultraviolet radiation damage, Microcephaly, Small for ge... |
OMIM:278780 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Short stature |
OMIM:601076 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Deficient... |
OMIM:227650 |
49,Xxxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Holoprosencephaly, Short stature, Ar... |
ORPHA:96264 |
8P11.2 Deletion Syndrome |
|
Growth delay, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Abnormality of t... |
ORPHA:251066 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Increased circulating gonadotropin level, Infertility, Impotence, Decreased serum testosterone co... |
ORPHA:2232 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Deficient... |
OMIM:600901 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Temple Syndrome |
|
Hydrocephalus, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormon... |
ORPHA:254516 |
48,Xxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... |
ORPHA:96263 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Decreased body weight, Relative macrocephaly, Abnormal external genitalia, Short stature, Small f... |
ORPHA:231140 |
Seckel Syndrome 6 |
|
Microcephaly, Short stature |
OMIM:614728 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Small for gestationa... |
OMIM:227646 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Deficient... |
OMIM:227645 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
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 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Growth delay, Abnormality of the hypothalamus-pituitary axis, Hypothyroidi... |
ORPHA:300298 |
Bloom Syndrome |
|
Growth delay, Type II diabetes mellitus, Postnatal growth retardation, Small for gestational age,... |
OMIM:210900 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... |
OMIM:308750 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell a... |
ORPHA:91348 |
H Syndrome |
|
Amenorrhea, Hydrocephalus, Micropenis, Short stature, Decreased testicular size, Hypogonadism, De... |
ORPHA:168569 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Short stature, Microcephaly, Deficient excision of UV-induced pyrimidine d... |
OMIM:278760 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Small for gestational age, Short statu... |
ORPHA:73272 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Cerebral atrophy, Hypogonadism |
OMIM:160900 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Macrocephaly, Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Adr... |
OMIM:614732 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Micropenis, Short stature, Pachygyria, Microcephaly, Lissencephaly, Patent duc... |
OMIM:243310 |
De Sanctis-Cacchione Syndrome |
|
Severe short stature, Cerebral atrophy, Basal ganglia calcification, Microcephaly, Gonadal hypopl... |
OMIM:278800 |
Bloom Syndrome |
|
Abdominal obesity, Growth delay, Small for gestational age, Severe postnatal growth retardation, ... |
ORPHA:125 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Dysmenorrhea, Bifid scrotum, Small for gestational age, Hypospadias, Hypot... |
ORPHA:397590 |
Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty |
ORPHA:90646 |
Silver-Russell Syndrome |
|
Abnormal vagina morphology, Precocious puberty, Postnatal growth retardation, Relative macrocepha... |
ORPHA:813 |
Fanconi Anemia |
|
Growth delay, Hydrocephalus, Absent testis, Decreased fertility in males, Bicornuate uterus, Abno... |
ORPHA:84 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Aarskog-Scott Syndrome |
|
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... |
OMIM:305400 |
Aromatase Deficiency |
|
Growth delay, Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Eunucho... |
ORPHA:91 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Cachexia, Microcephaly, Defective DNA repair after ultra... |
OMIM:610965 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Micropenis, Hypergonadotropic hypogonadism... |
OMIM:602782 |
Trichothiodystrophy |
|
Cerebral dysmyelination, Cerebral cortical atrophy, Cryptorchidism, Periventricular leukomalacia,... |
ORPHA:33364 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cerebral calcification, Growth delay, Testicular atrophy |
OMIM:613987 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Cerebral atrophy, Hypothyroidism, Diabetes mellitus, Growth delay, Diabetes i... |
OMIM:222300 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... |
ORPHA:453533 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
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Growth delay, Cervical spina bifida, Male pseudohermaphroditism, Postnatal growth retardation, Ob... |
OMIM:600122 |
Warburg Micro Syndrome 2 |
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Micropenis, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Hypoplastic labia ma... |
OMIM:614225 |
Ciliary Dyskinesia, Primary, 18 |
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Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Cryptorchidism, Oligospermia |
OMIM:314300 |
Ciliary Dyskinesia, Primary, 14 |
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Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 9 |
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Male infertility, Absent outer dynein arms |
OMIM:612444 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Oligospermia, Male infertility, Hypogonadism, Weight loss, Abnormal testis morphology, Primary te... |
ORPHA:85450 |
Autosomal Dominant Cerebellar Ataxia |
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Azoospermia |
ORPHA:99 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Cerebral hypoplasia, Hydrocephalus, Bifid scrotum, Micropenis, Hypospadias, Small for gestational... |
OMIM:257300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cholelithiasis, Growth delay, Hydrocephalus, Cachexia, Hypoplasia of the corpus callosum, Delayed... |
ORPHA:2072 |
Craniopharyngioma |
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Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Hydrocephalus, Central adrenal... |
ORPHA:54595 |
Microphthalmia, Syndromic 3 |
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Micropenis, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Microcephaly, Optic nerve ... |
OMIM:206900 |
Woodhouse-Sakati Syndrome |
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Growth delay, Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentrat... |
ORPHA:3464 |
Ciliary Dyskinesia, Primary, 19 |
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Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility |
OMIM:618948 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Short stature |
OMIM:300322 |
Oculocerebrorenal Syndrome Of Lowe |
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Abnormal calcium-phosphate regulating hormone level, Failure to thrive, Short stature, Hyperaldos... |
ORPHA:534 |
Generalized Glucocorticoid Resistance Syndrome |
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Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Ataxia-Telangiectasia |
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Failure to thrive, Short stature, Hypoplasia of the thymus, Microcephaly, Delayed puberty, Abnorm... |
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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Testicular atrophy, Short stature, Hypospadias, Abnormality of the Leydig cells, Megalencephaly, ... |
ORPHA:3063 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Absent outer dynein arms, Communicating hydrocephalus |
OMIM:244400 |
Diphallia |
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Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Ectopic scrotum, ... |
ORPHA:227 |
Primary Ciliary Dyskinesia |
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Hydrocephalus, Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Xeroderma Pigmentosum, Complementation Group A |
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Microcephaly, Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Autosomal Recessive Primary Microcephaly |
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Hypoplasia of the frontal lobes, Short stature, Microcephaly, Growth delay, Pachygyria, Agenesis ... |
ORPHA:2512 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... |
ORPHA:273 |
Xeroderma Pigmentosum, Complementation Group D |
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Microcephaly, Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Cystinosis, Nephropathic |
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Exocrine pancreatic insufficiency, Cerebral atrophy, Short stature, Cerebral calcification, Failu... |
OMIM:219800 |
Noonan Syndrome 1 |
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Short stature, Hypospadias, Male infertility, Patent ductus arteriosus, Hypogonadism, Postnatal g... |
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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Failure to thrive, Exocrine pancreatic insufficiency, Male infertility, Pancreatitis |
OMIM:219700 |