| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis, Cerebral edema |
OMIM:608033 |
| Glioblastoma |
|
Abnormal cerebral white matter morphology, Cerebral edema, Abnormal corpus callosum morphology |
ORPHA:360 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4 |
|
Cerebral edema |
OMIM:614212 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Abnormal globus pallidus morphology, Cerebral atrophy, Abnormal cerebral white matter morphology,... |
ORPHA:439218 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb... |
OMIM:604213 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Gliosis, Cerebral edema |
ORPHA:88619 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures |
|
Corpus callosum atrophy, Cerebral edema, Cerebral atrophy, Microcephaly |
OMIM:619876 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Cerebral edema, Cerebral atrophy, Microcephaly |
OMIM:614462 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Cerebral edema |
OMIM:237300 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Abnormal cerebral white matter morphology, Gliosis, Cerebral edema, Cerebral atrophy |
OMIM:618321 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Cerebral edema |
OMIM:201450 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Maple Syrup Urine Disease |
|
Cerebral edema |
OMIM:248600 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal cerebral white matter morphology, Cerebral edema |
ORPHA:83601 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Cerebral edema |
OMIM:603471 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Ischemic stroke, Cerebral edema, Leukoencephalopathy |
ORPHA:284388 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebral white matter atrophy, Cerebral edema, Leukoencephalopathy |
OMIM:617186 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Acute Disseminated Encephalomyelitis |
|
Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal basal... |
ORPHA:83597 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Cerebral edema |
OMIM:611126 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebral edema |
OMIM:602481 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cerebral edema, Oligohydramnios |
OMIM:617713 |
| Herpes Simplex Virus Encephalitis |
|
Cerebral edema |
ORPHA:1930 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Paucity of anterior horn motor neurons, Abnormal caudate nu... |
ORPHA:79139 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Dural Sinus Malformation |
|
Hypoplasia of the frontal lobes, Cerebral edema |
ORPHA:97339 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebral edema |
ORPHA:99901 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pachygyria, Lissencephaly, Cerebral edema, Astrocytosis |
ORPHA:258 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Cerebral edema |
OMIM:619355 |
| Angiostrongyliasis |
|
Cerebral edema |
ORPHA:74 |
| Familial Or Sporadic Hemiplegic Migraine |
|
Cerebral edema |
ORPHA:569 |
| Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Cerebral edema, Generalized edema |
ORPHA:319213 |
| Citrullinemia Type Ii |
|
Cerebral edema |
ORPHA:247585 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Gliosis |
OMIM:606688 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Amyotrophic lateral sclerosis |
OMIM:619132 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Astro... |
ORPHA:100070 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal basal ganglia morphology, Abnormal cerebral white matter morphology, Encephalomalacia, A... |
ORPHA:68 |
| Ethylene Glycol Poisoning |
|
Cerebral edema, Pulmonary edema |
ORPHA:31826 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoencephalopathy, Focal T2 hyperinten... |
OMIM:252010 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes |
OMIM:605055 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Citrullinemia, Classic |
|
Cerebral edema |
OMIM:215700 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
| Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Cryptococcosis |
|
Pleural effusion, Cerebral cortical atrophy, Cerebral edema |
ORPHA:1546 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Cerebral edema |
OMIM:311250 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cerebral edema, Megalencephaly |
ORPHA:3063 |
| Argininosuccinic Aciduria |
|
Cerebral edema |
OMIM:207900 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
| Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy |
OMIM:608907 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Lewy bodies, Gliosis, Cerebral cortical atrophy |
OMIM:607485 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Acute Liver Failure |
|
Cerebral edema |
ORPHA:90062 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy |
OMIM:616840 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Alzheimer Disease 3 |
|
Neurofibrillary tangles, Cerebral cortical atrophy |
OMIM:607822 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 |
|
Diffuse swelling of cerebral white matter, Diffuse spongiform leukoencephalopathy, Megalencephaly |
OMIM:604004 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Neurofibrillary tangles |
OMIM:137440 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Supranuclear Palsy, Progressive, 1 |
|
Neuronal loss in basal ganglia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degene... |
OMIM:601104 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Neurofibrillary tangles, Cerebral cortical atrophy |
ORPHA:1020 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Niemann-Pick Disease, Type C2 |
|
Neurofibrillary tangles, Fetal ascites, Polyhydramnios |
OMIM:607625 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Supranuclear Palsy, Progressive, 2 |
|
Neurofibrillary tangles, Neuronal loss in basal ganglia, Gliosis, Granulovacuolar degeneration |
OMIM:609454 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Niemann-Pick Disease, Type C1 |
|
Neurofibrillary tangles, Fetal ascites |
OMIM:257220 |
| Alzheimer Disease 4 |
|
Neurofibrillary tangles |
OMIM:606889 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles |
OMIM:610217 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles |
OMIM:117300 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Adult-Onset Dystonia-Parkinsonism |
|
Neurofibrillary tangles, Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia |
ORPHA:199351 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
| Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:194190 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
| Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... |
OMIM:601803 |
