Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Cataract 42 |
|
Developmental cataract |
OMIM:115900 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Cataract 21, Multiple Types |
|
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract |
OMIM:607906 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Progressive cataract |
OMIM:246000 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Partial vaginal septum, Uterus didelphys, Hematocolpos |
OMIM:192050 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract |
OMIM:300424 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract |
OMIM:212540 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract |
OMIM:604307 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract |
OMIM:120433 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:612964 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Morm Syndrome |
|
Cataract |
ORPHA:75858 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Cataract |
ORPHA:2528 |
Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
Retinitis Pigmentosa 2 |
|
Cataract |
OMIM:312600 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract |
OMIM:278780 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys |
ORPHA:3411 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... |
OMIM:614837 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract |
OMIM:614482 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
Retinitis Pigmentosa 37 |
|
Cataract |
OMIM:611131 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber |
OMIM:616722 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Iris coloboma |
OMIM:212550 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract |
ORPHA:2489 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... |
OMIM:604229 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract |
OMIM:257790 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... |
ORPHA:325124 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:612310 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619203 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... |
OMIM:614841 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Usher Syndrome Type 3 |
|
Astigmatism, Iris hypopigmentation, Cataract |
ORPHA:231183 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619665 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Martsolf Syndrome 2 |
|
Developmental cataract, Cataract |
OMIM:619420 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... |
OMIM:273250 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract |
OMIM:614879 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Leydig Cell Hypoplasia |
|
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... |
ORPHA:755 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... |
OMIM:400045 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314478 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract |
OMIM:613730 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Caudal Duplication |
|
Cryptorchidism, Abnormal penis morphology, Uterus didelphys |
ORPHA:1756 |
Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Perrault Syndrome 4 |
|
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... |
OMIM:615300 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract |
OMIM:616395 |
Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
Donnai-Barrow Syndrome |
|
Abnormality of the uterus, Bicornuate uterus |
ORPHA:2143 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
Dystonia, Juvenile-Onset |
|
Cataract |
OMIM:607371 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract |
OMIM:601794 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion |
OMIM:614878 |
Lumbar Syndrome |
|
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... |
ORPHA:83628 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract |
ORPHA:363741 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... |
ORPHA:90797 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina |
OMIM:146255 |
Teebi Hypertelorism Syndrome 1 |
|
Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus |
ORPHA:247768 |
Ifap Syndrome 2 |
|
Keratoconjunctivitis sicca, Cataract, Keratitis |
OMIM:619016 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... |
ORPHA:432 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Bifid uterus |
OMIM:617466 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Microcornea, Cataract, Ectopia pupillae |
OMIM:615877 |
Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Corneal erosion, Anterior lenticonus |
OMIM:203780 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Kennerknecht Syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Bicornuate uterus, Ambiguous genitalia, female |
OMIM:606408 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... |
OMIM:202010 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea |
ORPHA:1806 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Labial hypoplasia, Bicornuate uterus, Rectovaginal fistula, Clitoral hypertrophy |
OMIM:300707 |
Duplication Of Urethra |
|
Hypospadias, Bifid scrotum, Chordee, Uterus didelphys, Coronal hypospadias, Clitoral hypertrophy,... |
ORPHA:237 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... |
ORPHA:90796 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Bicornuate uterus, Abnormality of the urethra, Abnormality of the uterus |
ORPHA:2438 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Uterus didelphys, Micropenis |
OMIM:140000 |
Prune Belly Syndrome |
|
Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor... |
ORPHA:2970 |
Enhanced S-Cone Syndrome |
|
Cataract |
OMIM:268100 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Popliteal Pterygium Syndrome |
|
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... |
OMIM:119500 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Oeis Complex |
|
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... |
OMIM:258040 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Premature ovarian insufficiency |
ORPHA:243 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Keratitis, Cataract, Corneal neovascularization, Conjunctivitis |
OMIM:278730 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Micropenis, Premature ovarian in... |
OMIM:241080 |
Craniosynostosis With Ocular Abnormalities And Hallucal Defects |
|
Microcornea, Cataract |
OMIM:608279 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys |
ORPHA:2237 |
Fryns Syndrome |
|
Hypospadias, Bicornuate uterus, Cryptorchidism, Aganglionic megacolon |
ORPHA:2059 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Pseudotrisomy 13 Syndrome |
|
Bicornuate uterus, Micropenis, Cryptorchidism |
OMIM:264480 |
Microgastria-Limb Reduction Defects Association |
|
Bicornuate uterus, Splenogonadal fusion, Aganglionic megacolon, Cryptorchidism |
OMIM:156810 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of the uterus |
OMIM:309801 |
Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus |
OMIM:601186 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... |
OMIM:618820 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:110100 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... |
ORPHA:90793 |
Rhombencephalosynapsis |
|
Abnormality of the uterus, Aganglionic megacolon, Septo-optic dysplasia |
ORPHA:59315 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... |
ORPHA:3464 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Beaulieu-Boycott-Innes Syndrome |
|
Endometriosis |
OMIM:613680 |
Waardenburg Syndrome |
|
Abnormality of the uterus, Abnormal vagina morphology, Aganglionic megacolon |
ORPHA:3440 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:168558 |
Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:289548 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Micropenis, Endometriosis, Premature ovarian insufficiency |
ORPHA:363444 |
Pagod Syndrome |
|
Optic atrophy, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Agona... |
ORPHA:991 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
ORPHA:309246 |
Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Uterus didelphys |
OMIM:200980 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Opisthotonus, Bicornuate uterus,... |
OMIM:269150 |
Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... |
OMIM:614527 |
Fanconi Anemia |
|
Hypospadias, Aganglionic megacolon, Azoospermia, Abnormal preputium morphology, Absent testis, Ab... |
ORPHA:84 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormality of the uterus, Vaginal atresia, Micropenis, Abnormal fallopian tube morphology, Crypt... |
ORPHA:1655 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Exaggerated startle response |
OMIM:617301 |
Smith-Lemli-Opitz Syndrome |
|
Hypospadias, Aganglionic megacolon, Bifid scrotum, Bicornuate uterus, Micropenis, Ambiguous genit... |
OMIM:270400 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypoplasia of the uterus |
OMIM:137920 |
Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus, Aganglionic megacolon |
OMIM:154400 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormality of the uterus, Abnormal fallopian tube morphology, Cryptorchidis... |
ORPHA:99776 |
Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Cryptorchidism, Shawl scrotum |
ORPHA:2745 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplastic labia majora, Bicornuate uterus, Micropenis, Ambiguous genitalia, Bilateral cryptorch... |
OMIM:263650 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Posterior corti... |
ORPHA:67036 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Matthew-Wood Syndrome |
|
Abnormality of the uterus, Cryptorchidism |
ORPHA:2470 |
Meacham Syndrome |
|
Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Blind vagina |
OMIM:608978 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
OMIM:272750 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Labial hypoplasia, Bicornuate uterus, Clitoral hypertrophy |
ORPHA:140952 |
Tay-Sachs Disease |
|
Tremor, Optic atrophy, Precocious puberty, Exaggerated startle response |
ORPHA:845 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Bicornuate uterus, Papillary cystadenoma of the epididymis, Absent vas deferens |
ORPHA:93111 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micropenis, Septate vagina, Uterus didelphys |
OMIM:617925 |
Alg9-Cdg |
|
Bicornuate uterus, Hypoplasia of the ovary |
ORPHA:79328 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... |
ORPHA:322 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
Currarino Syndrome |
|
Rectovaginal fistula, Bicornuate uterus, Septate vagina |
OMIM:176450 |
Fraser Syndrome |
|
Hypospadias, Abnormal vagina morphology, Urethral atresia, Small scrotum, Bicornuate uterus, Vagi... |
ORPHA:2052 |
Fryns Syndrome |
|
Hypospadias, Aganglionic megacolon, Bifid scrotum, Bicornuate uterus, Cryptorchidism, Shawl scrotum |
OMIM:229850 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... |
OMIM:107480 |
Microsporidiosis |
|
Abnormality of the endometrium, Abnormal fallopian tube morphology, Urethritis, Prostatitis |
ORPHA:2552 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Exaggerated startle response |
OMIM:253800 |
Pontocerebellar Hypoplasia Type 7 |
|
Optic atrophy, Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal ... |
ORPHA:284339 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Exaggerated startle response |
OMIM:617527 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Polycystic ovaries, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... |
ORPHA:572333 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Exaggerated startle response |
ORPHA:521426 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response |
ORPHA:438216 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Testicular adrenal rest... |
ORPHA:90794 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Aplasia/hypoplasia of the uterus, Aplasia of the ovary, Agonadism, Non-obstructive ... |
ORPHA:2232 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina |
OMIM:271520 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cervical insufficiency, Uterine prolapse, Cystocele, Cryptorchidism |
OMIM:130050 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Aganglionic megacolon, Bifid uterus, Papillary cystadenoma of the epididymis, Premat... |
OMIM:180849 |
Fraser Syndrome 1 |
|
Hypospadias, Clitoral hypertrophy, Bicornuate uterus, Micropenis, Vaginal atresia, Cryptorchidism |
OMIM:219000 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... |
ORPHA:94095 |
Ulnar-Mammary Syndrome |
|
Abnormality of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:3138 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal... |
ORPHA:96121 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal vagina morphology, Bifid uterus |
OMIM:236680 |
Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Optic nerve hypoplasia, Aplasia of the vagina |
ORPHA:457284 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality ... |
OMIM:249000 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Cardiac-Urogenital Syndrome |
|
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism |
OMIM:618280 |
Norrie Disease |
|
Optic atrophy, Uterine rupture, Cryptorchidism |
ORPHA:649 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hypospadias, Imperforate hymen, Chordee, Exaggerated startle response, Urethral stricture, Crypto... |
OMIM:619522 |
Peters Plus Syndrome |
|
Hypospadias, Optic atrophy, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of the uterus |
ORPHA:709 |
Peters-Plus Syndrome |
|
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Clitoral hypoplasia, Cryptorchid... |
OMIM:261540 |
Cowden Syndrome |
|
Endometrial carcinoma, Abnormal penis morphology, Abnormality of the uterus, Enlarged polycystic ... |
ORPHA:201 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Bicornuate uterus |
OMIM:265380 |
Lacrimoauriculodentodigital Syndrome |
|
Bicornuate uterus, Cryptorchidism |
ORPHA:2363 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Optic atrophy, Aganglionic megacolon, Abnormality of the uterus, Cryptorchidism |
ORPHA:567 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Urethrovaginal fistula, Uterus didelphys, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:93271 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism |
ORPHA:286 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unicornuate uterus, Cryptorchidism, Micropenis, Congenital Horner syndrome |
OMIM:619503 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Long penis, Clitoral hypertrophy, Bicornuate uterus, Cryptorc... |
OMIM:268300 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Uterine prolapse, Cryptorchidism, Precocious pub... |
ORPHA:438213 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
Townes-Brocks Syndrome |
|
Hypospadias, Urethral valve, Abnormal vagina morphology, Bifid scrotum, Rectovaginal fistula, Rec... |
ORPHA:857 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Aplasia of the uterus |
ORPHA:69085 |
Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Uterine prolapse, Orthostatic hypotension |
ORPHA:287 |
Cornelia De Lange Syndrome |
|
Hypospadias, Hypoplastic labia majora, Abnormality of the uterus, Cryptorchidism, Hypoplasia of p... |
ORPHA:199 |
Coffin-Siris Syndrome 1 |
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Hypospadias, Cryptorchidism, Clitoral hypertrophy, Aplasia of the uterus |
OMIM:135900 |
Pallister-Hall Syndrome |
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Hypospadias, Aplasia/hypoplasia of the uterus, Small scrotum, Aplasia/Hypoplasia of the vagina, D... |
ORPHA:672 |
Wolf-Hirschhorn Syndrome |
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Hypospadias, Cryptorchidism, Precocious puberty, Aplasia of the uterus |
OMIM:194190 |
Coffin-Lowry Syndrome |
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Uterine prolapse |
OMIM:303600 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Hypospadias, Aplasia of the uterus, Anteriorly displaced genitalia, Cryptorchidism |
OMIM:276820 |
Aneurysm-Osteoarthritis Syndrome |
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Uterine prolapse |
ORPHA:284984 |
Loeys-Dietz Syndrome 3 |
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Cystocele, Uterine prolapse |
OMIM:613795 |
Pallister-Killian Syndrome |
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Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Aplasia of the upper... |
OMIM:601803 |