Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Testes, Rudimentary |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia |
OMIM:273150 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Cryptorchidism |
OMIM:274205 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Oligospermia, Precocious puberty, Long penis |
ORPHA:3000 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, C... |
ORPHA:1646 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis |
OMIM:614840 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... |
OMIM:309300 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, External genital hypoplasia, Cataract, Cryptorchidism, Retinal coloboma |
ORPHA:363741 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Cataract, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Fragile X Syndrome |
|
Congenital macroorchidism, Macroorchidism, postpubertal |
OMIM:300624 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Elevated circulating follicle stimulating hormone level, Hypogonadism |
OMIM:240950 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma |
OMIM:601794 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Cryptorchidism |
ORPHA:2489 |
Coats Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Microcornea |
ORPHA:231736 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
47,Xyy Syndrome |
|
Macroorchidism, Azoospermia, Oligospermia, Increased circulating gonadotropin level, Hypospadias,... |
ORPHA:8 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism, Juvenile cataract |
OMIM:300055 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased testicular size, Azoospermia, Male hypogo... |
ORPHA:52901 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina |
OMIM:613801 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Morm Syndrome |
|
Retinal atrophy, Cataract, Micropenis |
ORPHA:75858 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Peripheral tractional retinal detachment, Cataract, Optic atr... |
OMIM:143200 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Macular atrophy, Bone spicule pigmentation of the retina |
OMIM:618220 |
Retinitis Pigmentosa 9 |
|
Cataract, Macular atrophy, Bone spicule pigmentation of the retina |
OMIM:180104 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... |
OMIM:616425 |
Non-Functioning Pituitary Adenoma |
|
Female hypogonadism, Macroorchidism, Decreased response to growth hormone stimulation test, Hypog... |
ORPHA:91349 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract |
OMIM:616468 |
Polyembryoma |
|
Macroorchidism, Isosexual precocious puberty |
ORPHA:180229 |
Retinitis Pigmentosa 4 |
|
Retinal atrophy, Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina |
OMIM:613731 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Wagr Syndrome |
|
Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Cataract, Cryptorchidism, Displacement of th... |
ORPHA:893 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia, Cryptorchidism |
ORPHA:1069 |
Retinitis Pigmentosa |
|
Abnormal testis morphology, Optic atrophy, Hypogonadism, Hypoplasia of penis, Abnormality of reti... |
ORPHA:791 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Micropenis |
OMIM:610156 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Retinal detachment |
ORPHA:1473 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Iris coloboma, Hypospadias |
OMIM:618874 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Bone spicule pigmentation of the retina, C... |
OMIM:611040 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of retinal pigmentation, Cataract, Polycystic ovaries, Hyp... |
ORPHA:3085 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Adrenal hyperplasia, Male pseudohermaph... |
ORPHA:90790 |
Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Persistent pupillary membrane, Leukocoria, Hyaloid vascular remnan... |
ORPHA:91495 |
Cone-Rod Dystrophy 16 |
|
Cataract, Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina |
OMIM:614500 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Optic disc pallor, Cryptorchidism |
OMIM:613730 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Retinal detachment, Microphakia |
ORPHA:171844 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Iris coloboma, Cataract, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:2377 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus, Macular coloboma, Pigmentary retinopathy, Nummular pigmentation of the fundus |
OMIM:613835 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Retinal nonatt... |
OMIM:221900 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Abnormal testi... |
ORPHA:562 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Trisomy 20P |
|
Macroorchidism, Hypospadias, Cryptorchidism |
ORPHA:261318 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract, Uterine leiomyoma, Vaginal neoplasm, Uterine leiomyosarcoma |
ORPHA:523 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract |
OMIM:614284 |
Hereditary Bullous Dystrophy, Macular Type |
|
External genital hypoplasia, Decreased testicular size, Cataract, Corneal opacity, Cryptorchidism |
ORPHA:1867 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Macroorch... |
ORPHA:91 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anomaly, Corneal opacity, Op... |
OMIM:120200 |
Norrie Disease |
|
Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, Shallow anteri... |
OMIM:310600 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Thyroid hypoplasia, Decreased thyr... |
ORPHA:90674 |
Microphthalmia, Syndromic 5 |
|
Microcornea, Ectopic posterior pituitary, Optic nerve hypoplasia, Cataract, Cryptorchidism, Micro... |
OMIM:610125 |
Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Posterior subcapsular cataract, Cataract, Cryptorchidism, Pigmentary retinopathy |
OMIM:300578 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Retinal detachment |
OMIM:212550 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
49,Xxxyy Syndrome |
|
Ambiguous genitalia, Abnormality of the testis size, External genital hypoplasia, Decreased testi... |
ORPHA:261534 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, External genital hypoplasia, Decreased testicular size, Azoosperm... |
ORPHA:99330 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Warburg Micro Syndrome 2 |
|
Optic atrophy, Hypoplastic labia majora, Developmental cataract, Microcornea, Cataract, Cryptorch... |
OMIM:614225 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Iris coloboma, Cataract, Cryptorchidism, Sclerocornea |
ORPHA:139471 |
Carney Complex |
|
Leydig cell neoplasia, Increased circulating prolactin concentration, Precocious puberty, Macroor... |
ORPHA:1359 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Proteus Syndrome |
|
Macroorchidism, Enlarged polycystic ovaries, Central heterochromia, Abnormality of retinal pigmen... |
ORPHA:744 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract |
OMIM:619649 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Macroorchidism, Precocious puberty |
OMIM:619950 |
Cataract 15, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Microcornea, Vaginal atresia, Iris coloboma, Cataract, Cryp... |
ORPHA:3301 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the... |
OMIM:609049 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract |
ORPHA:2714 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Ectopia lentis, Anterior sub... |
OMIM:106210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Peters anomal... |
OMIM:614643 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Aspartylglucosaminuria |
|
Macroorchidism, Cataract |
OMIM:208400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Iris coloboma, Peters anomaly, Cataract, Micropenis, Ovotestis, Chordee, Hy... |
OMIM:309801 |
Norrie Disease |
|
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Ute... |
ORPHA:649 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Hypopituitarism, Cryptorchidism, Optic nerve hypoplasia |
OMIM:603671 |
Aspartylglucosaminuria |
|
Macroorchidism |
ORPHA:93 |
Microphthalmia, Syndromic 2 |
|
Developmental cataract, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Hypo... |
OMIM:300166 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Neuroocular Syndrome |
|
Brushfield spots, Lens coloboma, Microcornea, Remnants of the hyaloid vascular system, Iris colob... |
OMIM:619539 |
Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |