Microphthalmia, Syndromic 12 |
|
Anophthalmia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia |
OMIM:615524 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... |
ORPHA:2470 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia |
OMIM:164180 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthalmia, Enlarged kidney |
OMIM:613885 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Trisomy 13 |
|
Anophthalmia, Cryptorchidism, Abnormality of the ureter, Aplasia/Hypoplasia of the iris, Multiple... |
ORPHA:3378 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... |
OMIM:610125 |
Hydrolethalus |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Renal hypoplasia, ... |
OMIM:601186 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:77298 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Microphthalmia |
ORPHA:139471 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Anophthalmia, Cryptorchidism, Congenital megaureter,... |
ORPHA:261344 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Male hypogonadism, Anophthalmia, Cryptorchidism |
ORPHA:90322 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia |
ORPHA:66625 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... |
OMIM:158330 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... |
OMIM:235200 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... |
ORPHA:2250 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Walker-Warburg Syndrome |
|
Microphthalmia, Cryptorchidism, Hypoplasia of penis, Anophthalmia |
ORPHA:899 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Cryp... |
ORPHA:90321 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:3412 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ... |
OMIM:206900 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplas... |
ORPHA:264200 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... |
OMIM:146255 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... |
ORPHA:83628 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Abnormality of the spleen, Horseshoe ki... |
ORPHA:2538 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Microphtha... |
OMIM:617914 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Multicystic kidney dysplasia, Cryp... |
ORPHA:2052 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Cryptorchidism, Anophthalmia |
ORPHA:1101 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis |
OMIM:613987 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Holoprosencephaly |
|
Hypoplasia of penis, Diabetes mellitus, Anophthalmia, Proteinuria, Cryptorchidism, Abnormality of... |
ORPHA:2162 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... |
ORPHA:2556 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Abnormal t... |
OMIM:219000 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Horseshoe kidney, Mic... |
ORPHA:138 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Renal hypoplasia, Bicornuat... |
OMIM:137920 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... |
ORPHA:2237 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Hypothyroidism, Hydroneph... |
OMIM:222300 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia |
OMIM:605627 |
Meckel Syndrome 14 |
|
Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Microp... |
OMIM:619879 |
Oeis Complex |
|
Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... |
OMIM:258040 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorch... |
OMIM:614527 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Clito... |
OMIM:305600 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia, Unilateral renal agenesis, Ure... |
ORPHA:141099 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Adrenal insufficiency, Microphthalmia,... |
OMIM:300166 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia |
OMIM:616258 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
OMIM:214800 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Adrenal hypoplasia |
OMIM:619151 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Anophthalmia, Adrenal hypoplasia, Cryptorchidism, Renal hypop... |
OMIM:607932 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Cryptorchidism, True anophthalmia, Horseshoe kidney |
ORPHA:1106 |
Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia, Renal cyst |
OMIM:615636 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... |
ORPHA:322 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... |
ORPHA:3464 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio... |
OMIM:618280 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Microphthalmia, Micropenis |
OMIM:614083 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Horseshoe kidney |
ORPHA:3320 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Microphthalmia, Ecto... |
OMIM:113620 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... |
OMIM:309801 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Microphthalmia... |
OMIM:236680 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia |
OMIM:603041 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... |
OMIM:618419 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... |
ORPHA:69085 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Hydroureter, Cryptorchidism, Renal hypoplasia, Microphthalmia |
OMIM:309800 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Pancreatic cysts, Horseshoe kidney, Hepatosplenomegaly, Aplasia of the uter... |
OMIM:274000 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogo... |
ORPHA:273 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Stillbirth, Neonatal death, Microphthalmia |
OMIM:256520 |
Okamoto Syndrome |
|
Urinary incontinence, Abnormally large globe, Bifid uterus, Splenomegaly, Unilateral renal hypopl... |
ORPHA:2729 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract ... |
OMIM:194190 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... |
OMIM:107480 |
Norrie Disease |
|
Diabetes mellitus, Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterin... |
ORPHA:649 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus... |
OMIM:135900 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ectopic kidney, Vesicoureteral reflux, Microphthalmia... |
OMIM:164210 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism... |
OMIM:261540 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Congenital hypot... |
ORPHA:709 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... |
ORPHA:286 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplastic labia m... |
OMIM:601803 |