Spermatogenic Failure 5 |
|
Male infertility, Functional abnormality of male internal genitalia |
OMIM:243060 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... |
OMIM:619712 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... |
OMIM:301059 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... |
OMIM:618664 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... |
OMIM:619379 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... |
OMIM:618643 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... |
ORPHA:529970 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 35 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:617592 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... |
OMIM:619177 |
Spermatogenic Failure 64 |
|
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility |
OMIM:619696 |
Spermatogenic Failure 63 |
|
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... |
OMIM:618745 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 2 |
|
Azoospermia, Oligospermia |
OMIM:108420 |
Partial Chromosome Y Deletion |
|
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... |
ORPHA:1646 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 48 |
|
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619108 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619672 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Male infertility, Globozoospermia |
OMIM:102530 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 4 |
|
Azoospermia |
OMIM:270960 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size |
OMIM:619145 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... |
ORPHA:399808 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:613582 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... |
ORPHA:98798 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Azoospermia, Infertility |
OMIM:617706 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Familial Male-Limited Precocious Puberty |
|
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility |
ORPHA:3000 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber |
OMIM:616722 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Oligospermia, Infertility |
OMIM:615703 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy |
OMIM:618220 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... |
ORPHA:399805 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Wagner Vitreoretinopathy |
|
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... |
OMIM:143200 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration |
OMIM:618195 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Male infertility, Testicular atrophy |
OMIM:309120 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Abnormality of male internal genitalia, Male infertility |
OMIM:261550 |
Coats Disease |
|
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... |
ORPHA:190 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... |
OMIM:610599 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... |
ORPHA:52901 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... |
ORPHA:231736 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... |
ORPHA:320391 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... |
OMIM:616468 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Male infertility, Testicular atrophy |
ORPHA:276183 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Macular Dystrophy With Central Cone Involvement |
|
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy |
OMIM:616170 |
Anterior Segment Dysgenesis 8 |
|
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... |
OMIM:617319 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... |
OMIM:610202 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... |
ORPHA:411527 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Ectopia Lentis Et Pupillae |
|
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Birdshot Chorioretinopathy |
|
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... |
ORPHA:179 |
Megalocornea |
|
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... |
OMIM:309300 |
Ring Chromosome Y Syndrome |
|
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:261529 |
Cone-Rod Dystrophy 16 |
|
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... |
OMIM:614500 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber |
OMIM:618880 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Developmental cataract, Corneal dystrophy, Optic atrophy |
ORPHA:2572 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... |
OMIM:212550 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Decreased fertility, Dysmenorrhea |
OMIM:131200 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Cranial nerve compression, Macular atrophy, Optic atrophy |
OMIM:250450 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... |
OMIM:221900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment |
ORPHA:90654 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... |
OMIM:607921 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... |
OMIM:193230 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Anterior Segment Dysgenesis 5 |
|
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... |
OMIM:604229 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract, Optic nerve dysplasia |
OMIM:246000 |
Retinitis Pigmentosa 9 |
|
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Intermediate Uveitis |
|
Macular scar, Band keratopathy, Optic neuritis, Vitreous haze, Cataract, Cystoid macular edema, P... |
ORPHA:279914 |
Idiopathic Anterior Uveitis |
|
Posterior synechiae of the anterior chamber, Macular edema, Nuclear cataract, Increased cup-to-di... |
ORPHA:280914 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... |
OMIM:133780 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cataract, Retinal dystrophy |
OMIM:615995 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract |
OMIM:610156 |
Retinitis Pigmentosa 71 |
|
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... |
OMIM:616394 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... |
OMIM:604393 |
Familial Exudative Vitreoretinopathy |
|
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... |
ORPHA:891 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Chorioretinal coloboma, Optic atrophy |
ORPHA:2732 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy |
OMIM:616171 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Primary amenorrhea, Azoospermia, Hypogonadism, Decreased testicular size |
OMIM:229070 |
Anterior Segment Dysgenesis 2 |
|
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... |
OMIM:610256 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy |
OMIM:611131 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy |
OMIM:615658 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size |
OMIM:614897 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... |
ORPHA:1473 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy |
OMIM:617087 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy |
OMIM:609021 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Cataract |
ORPHA:75858 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... |
OMIM:204100 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... |
OMIM:617091 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... |
OMIM:618613 |
Norrie Disease |
|
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... |
OMIM:310600 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... |
OMIM:610359 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract |
OMIM:121900 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... |
ORPHA:364055 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1377 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... |
OMIM:616188 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract |
OMIM:615434 |
Oculoauricular Syndrome |
|
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... |
OMIM:612109 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Hypop... |
OMIM:614837 |
Retinitis Pigmentosa 38 |
|
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy |
OMIM:613862 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Cataract, Pigmentary retinopathy |
OMIM:613731 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment |
ORPHA:35737 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma |
OMIM:615147 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... |
OMIM:612572 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism |
OMIM:602668 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Peters Anomaly |
|
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... |
ORPHA:708 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Cataract, Retinal dysplasia, Optic atrophy |
OMIM:613154 |
Spermatogenic Failure 28 |
|
Azoospermia, Decreased testicular size |
OMIM:618086 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Phacoanaphylactic Uveitis |
|
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... |
ORPHA:209959 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... |
OMIM:251270 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... |
OMIM:618889 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Immotile sperm, Male infertility |
OMIM:614874 |
Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... |
OMIM:120200 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Exfoliation Syndrome |
|
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... |
OMIM:177650 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm |
OMIM:612650 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Vitreoretinopathy, Uveitis, Retinal detachment, Posterior ret... |
OMIM:193235 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Oligospermia, Precocious puberty |
OMIM:300200 |
Microphthalmia, Isolated 5 |
|
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Rod-cone ... |
OMIM:611040 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... |
OMIM:300476 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... |
ORPHA:64734 |
47,Xyy Syndrome |
|
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Male infertili... |
ORPHA:8 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration |
OMIM:615922 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Idiopathic Panuveitis |
|
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... |
ORPHA:280921 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus |
ORPHA:2578 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy |
OMIM:614296 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Retinitis Pigmentosa 50 |
|
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... |
OMIM:613194 |
Hemochromatosis, Type 2A |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility |
OMIM:602390 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation |
ORPHA:99000 |
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Posterior Polymorphous Corneal Dystrophy |
|
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... |
ORPHA:98973 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy |
OMIM:618572 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... |
OMIM:609913 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... |
OMIM:193220 |
Retinitis Pigmentosa 63 |
|
Rod-cone dystrophy, Optic disc pallor |
OMIM:614494 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... |
OMIM:602772 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... |
OMIM:305390 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Chorioretinal coloboma, Microcoria, Iris coloboma |
OMIM:616428 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Retinal dystrophy, Optic atrophy |
OMIM:614706 |
Eales Disease |
|
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Retinal vasculitis, Retinal thinning, R... |
ORPHA:40923 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... |
OMIM:122000 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, O... |
ORPHA:137902 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... |
OMIM:613581 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc |
ORPHA:65 |
Androgen Insensitivity, Partial |
|
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... |
OMIM:312300 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... |
ORPHA:2334 |
Retinitis Pigmentosa 74 |
|
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy |
OMIM:616562 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Coloboma, Cataract |
OMIM:607906 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Retinitis Pigmentosa 10 |
|
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... |
OMIM:180105 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... |
OMIM:600138 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma |
OMIM:604219 |
Coloboma, Ocular, Autosomal Recessive |
|
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma |
OMIM:216820 |
Isolated Aniridia |
|
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Premature Ovarian Failure 10 |
|
Primary amenorrhea, Azoospermia, Decreased testicular size, Premature ovarian insufficiency, Hypo... |
OMIM:612885 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... |
OMIM:613807 |
Retinitis Pigmentosa 26 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:608380 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... |
OMIM:617315 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract, Rod-cone dystrophy |
OMIM:619082 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... |
ORPHA:91495 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Night Blindness, Congenital Stationary, Type 1G |
|
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness |
OMIM:616389 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... |
OMIM:180080 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic disc pallor, Optic atrophy |
OMIM:615722 |
Functioning Gonadotropic Adenoma |
|
Infertility, Decreased female libido, Amenorrhea, Ovarian cyst, Enlarged polycystic ovaries, Olig... |
ORPHA:91348 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Optic disc pallor |
OMIM:614181 |
Irvan Syndrome |
|
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... |
ORPHA:209943 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Cataract, Macular degeneration, Optic atrophy |
OMIM:204200 |
Ciliary Dyskinesia, Primary, 40 |
|
Azoospermia, Absent outer dynein arms, Infertility, Patent ductus arteriosus |
OMIM:618300 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Amenorrhea, Hypogonadism, Oligomenorrhea |
ORPHA:91351 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... |
OMIM:601813 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... |
OMIM:204000 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... |
OMIM:165550 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract |
OMIM:617304 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy |
OMIM:608553 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... |
OMIM:613810 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal vein occlusion, Abnorma... |
ORPHA:98977 |
Retinitis Pigmentosa 72 |
|
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract |
OMIM:616469 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Hypogonadism |
OMIM:240950 |
Retinitis Pigmentosa 14 |
|
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... |
OMIM:600132 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... |
OMIM:618826 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria |
OMIM:263100 |
Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:606068 |
Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment |
OMIM:157150 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Fundus atrophy, Abnormal suspensory ligament of lens mo... |
ORPHA:67042 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Retinal degeneration, Optic atrophy |
OMIM:614322 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Sensory axonal neuropathy, Cataract, Optic atrophy |
ORPHA:329314 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Choriocapillaris atrophy |
OMIM:613835 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Chorioretinal coloboma, Cataract |
ORPHA:2489 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Chorioretinal coloboma, Microcornea, Iris coloboma |
OMIM:601706 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia |
ORPHA:171844 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic neuritis, Peripheral demyelination, Optic atrophy |
OMIM:165200 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... |
OMIM:601718 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Kennedy Disease |
|
Erectile dysfunction, Decreased fertility, Testicular atrophy |
ORPHA:481 |
Retinitis Pigmentosa 76 |
|
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... |
OMIM:617123 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Optic atrophy |
OMIM:608611 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Retinal dystrophy, Optic disc pallor |
OMIM:616079 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Cataract, Retinal detachment |
OMIM:127200 |
48,Xyyy Syndrome |
|
Azoospermia, Male hypogonadism |
ORPHA:99329 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
OMIM:601794 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Papilledema |
OMIM:124950 |
Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:261519 |
Retinitis Pigmentosa 66 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcaps... |
OMIM:615233 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... |
OMIM:228300 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy |
ORPHA:1538 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Retinopathy, Cataract |
OMIM:183800 |
Coats Disease |
|
Retinal telangiectasia, Leukocoria, Exudative retinal detachment |
OMIM:300216 |
Uveal Melanoma |
|
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... |
ORPHA:39044 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy |
ORPHA:320396 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Ring Chromosome 21 Syndrome |
|
Azoospermia, Infertility, Amenorrhea |
ORPHA:1445 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
ORPHA:363741 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Rod-cone dystrophy,... |
OMIM:312600 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis |
ORPHA:324416 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Optic atrophy, Pigmentary retinopathy |
OMIM:610951 |
Amoebic Keratitis |
|
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... |
ORPHA:67043 |
Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... |
ORPHA:754 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Partial Androgen Insensitivity Syndrome |
|
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... |
ORPHA:90797 |
Lead Poisoning |
|
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Decre... |
ORPHA:330015 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Neurodegeneration With Brain Iron Accumulation |
|
Retinopathy, Optic atrophy |
ORPHA:385 |
Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy |
OMIM:616881 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:248000 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Optic Atrophy 9 |
|
Optic atrophy |
OMIM:616289 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy |
OMIM:611726 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus |
OMIM:601076 |
Testicular Regression Syndrome |
|
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... |
ORPHA:983 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
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Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis |
OMIM:251750 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
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Optic atrophy |
OMIM:309555 |
Usher Syndrome, Type 1M |
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Optic disc pallor, Drusen |
OMIM:618632 |
Wildervanck Syndrome |
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Facial palsy, Pseudopapilledema, Lens subluxation |
ORPHA:3456 |
Ciliary Dyskinesia, Primary, 9 |
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Absent outer dynein arms, Male infertility |
OMIM:612444 |
Retinitis Pigmentosa 78 |
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Cystoid macular edema, Optic disc pallor |
OMIM:617433 |
Retinitis Pigmentosa 83 |
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Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... |
OMIM:618173 |
Generalized Glucocorticoid Resistance Syndrome |
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Infertility, Oligospermia, Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia,... |
ORPHA:786 |
Leber Hereditary Optic Neuropathy |
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Retinal telangiectasia, Retinal vascular tortuosity, Optic atrophy |
ORPHA:104 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
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Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... |
ORPHA:753 |
Camos Syndrome |
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Optic atrophy |
ORPHA:83472 |
Developmental And Epileptic Encephalopathy 28 |
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Retinal degeneration, Optic atrophy |
OMIM:616211 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
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Optic atrophy |
OMIM:616859 |
Ciliary Dyskinesia, Primary, 5 |
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Reduced sperm motility |
OMIM:608647 |
Periventricular Nodular Heterotopia 7 |
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Optic atrophy |
OMIM:617201 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
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Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:619389 |
Mucolipidosis Iv |
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Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy |
OMIM:252650 |
Chromosome 16Q12 Duplication Syndrome |
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Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria |
OMIM:619649 |
Deafness-Hypogonadism Syndrome |
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Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Retinohepatoendocrinologic Syndrome |
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Cone dystrophy, Optic disc pallor |
OMIM:268040 |
Weill-Marchesani Syndrome 4 |
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Phakodonesis, Ectopia lentis, Iridodonesis |
OMIM:613195 |
Retinopathy, Pigmentary, And Mental Retardation |
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Pigmentary retinopathy, Cataract |
OMIM:268050 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Reduced progressive sperm motility |
OMIM:619608 |
Glaucoma 1, Open Angle, F |
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Increased cup-to-disc ratio |
OMIM:603383 |
Lissencephaly 8 |
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Cataract, Optic atrophy |
OMIM:617255 |
Retinitis Pigmentosa 23 |
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Rod-cone dystrophy, Posterior subcapsular cataract |
OMIM:300424 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
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Cataract |
OMIM:225740 |
Developmental And Epileptic Encephalopathy 58 |
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