Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
Uterine Anomalies |
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Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypergonadotropic h... |
OMIM:617872 |
46,Xy Sex Reversal 4 |
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Sex reversal, Hypoplastic labia majora, Agonadism, Increased blood urea nitrogen, Hypergonadotrop... |
OMIM:154230 |
Testicular Regression Syndrome |
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Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Interstitial Nephritis, Karyomegalic |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
46,Xy Sex Reversal 3 |
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Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... |
OMIM:612965 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the ovary, Hyperuricemia |
ORPHA:543 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
46,Xy Sex Reversal 11 |
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Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... |
OMIM:273250 |
Drug-Induced Lupus Erythematosus |
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Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... |
ORPHA:231111 |
Leydig Cell Hypoplasia |
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Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia |
OMIM:613845 |
Ovarian Dysgenesis 6 |
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Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
46,Xy Sex Reversal 7 |
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Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Androgen Insensitivity Syndrome |
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Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla... |
ORPHA:754 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... |
ORPHA:168563 |
Uremic Pruritus |
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Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Complete Androgen Insensitivity Syndrome |
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Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... |
ORPHA:99429 |
Diethylstilbestrol Syndrome |
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Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
Partial Androgen Insensitivity Syndrome |
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Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Hereditary Renal Hypouricemia |
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Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
Testicular Agenesis |
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Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Orthostatic Hypotension 1 |
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Increased blood urea nitrogen, Hypomagnesemia |
OMIM:223360 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Genital ulcers, Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of th... |
OMIM:602450 |
Ovarian Dysgenesis 2 |
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Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Premature Ovarian Failure 7 |
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Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
46,Xx Sex Reversal 2 |
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Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the uterus, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopi... |
OMIM:158330 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Igg4-Related Retroperitoneal Fibrosis |
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Hydrocele testis, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Increased circulating guanosine concentration, Lymph... |
OMIM:613179 |
Cockayne Syndrome Type 1 |
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Male hypogonadism, Increased blood urea nitrogen, Cryptorchidism |
ORPHA:90321 |
Dopamine Beta-Hydroxylase Deficiency |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
Renal And Mullerian Duct Hypoplasia |
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Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus |
OMIM:266810 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Precocious puberty in females, Bifid scrotum, Decreased circulating renin level, Bilateral crypto... |
ORPHA:90793 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Abnormal... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Abnormal... |
ORPHA:289548 |
Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Premature Ovarian Failure 18 |
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Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Decreased circu... |
OMIM:202010 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
Lumbar Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... |
ORPHA:83628 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Satoyoshi Syndrome |
|
Mildly elevated creatine kinase, Hypoplasia of the uterus |
OMIM:600705 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Hypoplasia of the uterus |
OMIM:619151 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Aplasia of the uterus, Hypocalcemic seizures, Septate vagina, Hypocalcemia, Uter... |
ORPHA:2237 |
Perrault Syndrome 4 |
|
Bicornuate uterus, Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:615300 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus |
ORPHA:247768 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Aplasia of the vagina, Uterus didelphys, Aplasia of the uterus |
OMIM:146255 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy... |
ORPHA:432 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia... |
ORPHA:90794 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... |
ORPHA:90796 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... |
OMIM:258040 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Decreased serum iron, Reduced hap... |
ORPHA:447 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
Agammaglobulinemia, X-Linked |
|
Epididymitis, Lymph node hypoplasia, Prostatitis |
OMIM:300755 |
Popliteal Pterygium Syndrome |
|
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... |
OMIM:119500 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus |
OMIM:271520 |
Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypospadias, Elevated ci... |
OMIM:137920 |
Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... |
OMIM:601186 |
Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Hype... |
OMIM:241080 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovarian cyst, Aplas... |
OMIM:614527 |
Woodhouse-Sakati Syndrome |
|
Abnormal spermatogenesis, Hypogonadism, Decreased testicular size, Hyperlipidemia, Hypoplasia of ... |
ORPHA:3464 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Bone marrow hypocellularity |
OMIM:614083 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplastic labia majora, Clitoral hypoplasia, Accessory spleen, Gonadal dysgenesis, Hypoplasia o... |
OMIM:618419 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Unilateral cryptorchidism, Aplasia of the uterus, Penoscrotal... |
OMIM:618280 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee |
OMIM:309801 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Hepatosplenomegaly |
OMIM:274000 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Decreased circulat... |
OMIM:201750 |
Exstrophy-Epispadias Complex |
|
Absent penis, Bifid scrotum, Penoscrotal transposition, Epispadias, Bifid uterus, Bifid penis, Cy... |
ORPHA:322 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Aplasia of the uterus, Hypospadias, Accessory spleen, Cryptorchidism |
OMIM:194190 |
Hydrolethalus Syndrome 1 |
|
Bifid uterus, Accessory spleen, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse |
OMIM:130050 |
Coffin-Siris Syndrome 1 |
|
Aplasia of the uterus, Hypospadias, Clitoral hypertrophy, Cryptorchidism |
OMIM:135900 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, Urethral valve, ... |
OMIM:107480 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Small scrotum |
OMIM:276820 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Polycystic ovaries, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
ORPHA:572333 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia, Uterine rupture, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse |
ORPHA:286 |
Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
Pallister-Killian Syndrome |
|
Labial hypoplasia, Aplasia of the upper vagina, Hypoplastic labia majora, Aplasia of the uterus, ... |
OMIM:601803 |