Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Facial palsy, Macular coloboma |
OMIM:107550 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia |
OMIM:613703 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma |
OMIM:251505 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Cataract |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Cataract |
ORPHA:363741 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Renal Coloboma Syndrome |
|
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia |
ORPHA:1475 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Coloboma Of Macula And Skeletal Anomalies |
|
Macular coloboma |
OMIM:216800 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract |
ORPHA:324416 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... |
OMIM:615145 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Hypomandibular Faciocranial Dysostosis |
|
Optic disc coloboma |
OMIM:241310 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma |
ORPHA:2791 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Curry-Jones Syndrome |
|
Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia |
OMIM:300843 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... |
OMIM:619260 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Developmental cataract |
OMIM:246000 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Congenital Tufting Enteropathy |
|
Corneal erosion, Optic disc coloboma, Punctate keratitis, Cataract |
ORPHA:92050 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Corneal erosion, Optic disc coloboma |
OMIM:270420 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Optic disc coloboma, Iris coloboma |
ORPHA:52055 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Nivelon-Nivelon-Mabille Syndrome |
|
Hypoplasia of the iris, Optic disc coloboma |
OMIM:600092 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma |
ORPHA:2510 |
Kapur-Toriello Syndrome |
|
Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Microphthalmia, Lenz Type |
|
Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:568 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Warsaw Breakage Syndrome |
|
Optic disc coloboma |
OMIM:613398 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
Joubert Syndrome 16 |
|
Coloboma, Retinal dystrophy |
OMIM:614465 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Orofaciodigital Syndrome Ix |
|
Retinal coloboma |
OMIM:258865 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
2Q24 Microdeletion Syndrome |
|
Coloboma, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Joubert Syndrome 15 |
|
Retinopathy, Coloboma, Retinal dystrophy |
OMIM:614464 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Optic disc coloboma, Iris coloboma |
OMIM:300472 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Astigmatism, Retinal coloboma, Cataract |
OMIM:618571 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Microphthalmia, Syndromic 5 |
|
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma |
OMIM:610125 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Kapur-Toriello Syndrome |
|
Cataract, Retinal coloboma, Iris coloboma |
OMIM:244300 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Retinal dystrophy, Retinal coloboma, Iris coloboma |
ORPHA:220493 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Microcornea, Colobom... |
ORPHA:959 |
Abruzzo-Erickson Syndrome |
|
Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:921 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Aplasia/Hypoplasia of the optic nerve, Retinal dystrophy, Macular coloboma |
ORPHA:423479 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Retinal dysplasia, Chorioretinal coloboma |
OMIM:213300 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Joubert Syndrome 22 |
|
Coloboma, Retinal dysplasia |
OMIM:615665 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Pelvis-Shoulder Dysplasia |
|
Microcornea, Retinal coloboma, Iris coloboma |
ORPHA:2839 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract |
OMIM:616722 |
Hypomandibular Faciocranial Dysostosis |
|
Optic disc coloboma |
ORPHA:1790 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia |
OMIM:300749 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Rod-cone dystrophy |
ORPHA:324737 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Optic disc coloboma, Microcornea, Retinoschisis, Heterochromia iridis, Iris coloboma |
ORPHA:2995 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Joubert Syndrome With Hepatic Defect |
|
Optic disc coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:1454 |
Momo Syndrome |
|
Retinal coloboma |
OMIM:157980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Joubert Syndrome 2 |
|
Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma |
OMIM:608091 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Coloboma, Cataract, Corneal opacity |
OMIM:613153 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Congenital Disorder Of Deglycosylation 2 |
|
Retinal coloboma |
OMIM:619775 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Steinfeld Syndrome |
|
Retinal coloboma, Iris coloboma |
OMIM:184705 |
Biemond Syndrome Type 2 |
|
Coloboma |
ORPHA:141333 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Rod-cone dystrophy, Macular coloboma, Astigmatism |
OMIM:248190 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
2Q31.1 Microdeletion Syndrome |
|
Coloboma, Optic disc coloboma, Iris coloboma |
ORPHA:251014 |
Duane-Radial Ray Syndrome |
|
Cataract, Aganglionic megacolon, Facial palsy, Optic disc hypoplasia, Retinal coloboma, Iris colo... |
OMIM:607323 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Coach Syndrome 2 |
|
Coloboma, Chorioretinal coloboma |
OMIM:619111 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Otodental Dysplasia |
|
Coloboma |
OMIM:166750 |
Joubert Syndrome 23 |
|
Coloboma |
OMIM:616490 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
Hallermann-Streiff Syndrome |
|
Optic disc coloboma, Iris coloboma, Chorioretinal coloboma, Cataract |
OMIM:234100 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Orofaciodigital Syndrome V |
|
Optic disc coloboma, Aganglionic megacolon |
OMIM:174300 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina... |
ORPHA:141099 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma, Cataract, Optic atrophy |
OMIM:612379 |
Aicardi Syndrome |
|
Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy |
OMIM:304050 |
Oligomeganephronia |
|
Optic disc coloboma |
ORPHA:2260 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia |
ORPHA:65288 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Facial palsy, Optic nerve hypoplasia, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... |
ORPHA:508498 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia |
OMIM:218670 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Meg... |
ORPHA:536471 |
Cornelia De Lange Syndrome 1 |
|
Microcornea, Optic disc coloboma, Optic atrophy, Astigmatism |
OMIM:122470 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Coloboma, Cataract, Retinal degeneration |
OMIM:615249 |
Marcus-Gunn Syndrome |
|
Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly |
ORPHA:91412 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Optic disc coloboma |
OMIM:618454 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy |
ORPHA:496790 |
Joubert Syndrome 5 |
|
Rod-cone dystrophy, Retinal coloboma |
OMIM:610188 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Thauvin-Robinet-Faivre Syndrome |
|
Coloboma, Retinal coloboma |
OMIM:617107 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Coloboma, Cataract, Iris transillumination defect |
OMIM:617306 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Retinal coloboma |
OMIM:616546 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
Frontonasal Dysplasia 1 |
|
Coloboma, Cataract |
OMIM:136760 |
Chime Syndrome |
|
Retinal coloboma, Corneal opacity |
ORPHA:3474 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Aganglionic megacolon, Iris coloboma |
ORPHA:85284 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Astigmatism, Retinal coloboma, Cataract |
ORPHA:500095 |
Neurooculocardiogenitourinary Syndrome |
|
Coloboma, Peters anomaly |
OMIM:618652 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr... |
OMIM:236670 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Per... |
ORPHA:79282 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract |
OMIM:613763 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Optic disc coloboma, Facial palsy, Iris coloboma |
OMIM:620186 |
Verheij Syndrome |
|
Coloboma, Optic nerve hypoplasia |
OMIM:615583 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma |
OMIM:619318 |
Orofaciodigital Syndrome Xiv |
|
Optic disc coloboma, Retinal coloboma, Retinitis |
OMIM:615948 |
5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:228384 |
Pontocerebellar Hypoplasia, Type 11 |
|
Coloboma |
OMIM:617695 |
Baraitser-Winter Syndrome 2 |
|
Coloboma |
OMIM:614583 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
Distal 22Q11.2 Microduplication Syndrome |
|
Optic disc coloboma |
ORPHA:261337 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Retinal coloboma, Chorioretinal coloboma |
OMIM:280000 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma, Conjunctival hyperemia |
OMIM:167730 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Optic disc coloboma, Astigmatism |
OMIM:617157 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma |
OMIM:601357 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Coloboma, Astigmatism |
OMIM:618659 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
Optic Atrophy 11 |
|
Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Cherry red spot of the macula, Decreased ... |
OMIM:617302 |
Joubert Syndrome 14 |
|
Coloboma, Optic atrophy, Morning glory anomaly |
OMIM:614424 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Optic disc coloboma, Optic atrophy, Cataract |
OMIM:607872 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae |
OMIM:615877 |
Familial Multiple Lipomatosis |
|
Coloboma, Chorioretinitis |
ORPHA:199276 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma, Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma |
OMIM:616789 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Coloboma |
ORPHA:464288 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Zonular cataract, Optic nerve hypoplasia |
OMIM:222765 |
Branchio-Oculo-Facial Syndrome |
|
Microcornea, Coloboma, Cataract, Iris coloboma |
ORPHA:1297 |
Cardiofaciocutaneous Syndrome 4 |
|
Cataract, Optic nerve hypoplasia |
OMIM:615280 |
Coach Syndrome 1 |
|
Coloboma, Optic disc pallor |
OMIM:216360 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Astigmatism, Optic nerve hypoplasia, Hyperopic astigmatism |
ORPHA:363686 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:614833 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
8Q24.3 Microdeletion Syndrome |
|
Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508488 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia |
OMIM:300953 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
Orofaciodigital Syndrome Type 14 |
|
Retinal coloboma |
ORPHA:434179 |
Solitary Median Maxillary Central Incisor |
|
Coloboma, Cyclopia |
OMIM:147250 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma |
OMIM:206900 |
Stevenson-Carey Syndrome |
|
Coloboma |
OMIM:611961 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia |
OMIM:618828 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia |
ORPHA:572013 |
Ritscher-Schinzel Syndrome 1 |
|
Coloboma |
OMIM:220210 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia |
OMIM:618381 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia |
OMIM:607597 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Coloboma |
ORPHA:329224 |
15Q24 Microdeletion Syndrome |
|
Coloboma |
ORPHA:94065 |
Charge Syndrome |
|
Cataract, Facial palsy, Coloboma, Retinal coloboma, Iris coloboma |
OMIM:214800 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coloboma, Corneal opacity |
OMIM:163200 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma |
ORPHA:3301 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
Peters-Plus Syndrome |
|
Cataract, Retinal coloboma, Iris coloboma, Peters anomaly |
OMIM:261540 |
Branchiooculofacial Syndrome |
|
Facial palsy, Retinal coloboma, Iris coloboma, Cataract |
OMIM:113620 |
Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal col... |
OMIM:309800 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... |
ORPHA:42775 |
Cree Mental Retardation Syndrome |
|
Coloboma |
OMIM:606851 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia |
OMIM:615879 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Fanconi Anemia, Complementation Group I |
|
Astigmatism, Optic nerve hypoplasia |
OMIM:609053 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia |
OMIM:618156 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Corneal opacity, Optic nerve hypoplasia |
OMIM:301056 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Aganglionic megacolon, Abnormal pupil morphology, Optic atrophy, Microcor... |
ORPHA:261552 |
White-Sutton Syndrome |
|
Optic nerve hypoplasia, Rod-cone dystrophy, Iris coloboma, Astigmatism |
OMIM:616364 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:3157 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:617914 |
Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract |
ORPHA:45358 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cataract, Aganglionic megacolon, Astigmatism, Retinal coloboma, Axenfeld anomaly, Iris coloboma |
ORPHA:261537 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia |
OMIM:220120 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia |
OMIM:617864 |
Mowat-Wilson Syndrome |
|
Cataract, Aganglionic megacolon, Astigmatism, Retinal coloboma, Axenfeld anomaly, Iris coloboma |
ORPHA:2152 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar... |
ORPHA:101085 |
19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:357001 |
Phakomatosis Pigmentokeratotica |
|
Coloboma, Pheochromocytoma |
ORPHA:2874 |
16Q24.3 Microdeletion Syndrome |
|
Astigmatism, Optic nerve hypoplasia |
ORPHA:261250 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia |
OMIM:612513 |
2P15P16.1 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Facial palsy |
ORPHA:261349 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cataract, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
Bohring-Opitz Syndrome |
|
Coloboma, Retinal atrophy, Optic atrophy |
ORPHA:97297 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Coloboma |
ORPHA:251028 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Coloboma, Optic atrophy, Peters anomaly |
OMIM:616975 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology |
ORPHA:300570 |
Fg Syndrome Type 1 |
|
Optic nerve hypoplasia |
ORPHA:93932 |
Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Iris coloboma |
OMIM:605627 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Cyclopia, Optic nerve hypoplasia |
OMIM:301043 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Coloboma, Abnormal autonomic nervous system physiology |
ORPHA:453499 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Bosma Arhinia Microphthalmia Syndrome |
|
Coloboma, Cataract |
OMIM:603457 |
Acrocallosal Syndrome |
|
Coloboma, Optic atrophy, Hypopigmentation of the fundus |
OMIM:200990 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Coloboma, Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Coloboma, Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:352665 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:620029 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Coloboma |
OMIM:618183 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Cataract, Neurofibroma, Coloboma, Chorioretinal coloboma, Peripheral demyelination, Juvenile cata... |
OMIM:619475 |
Asparagine Synthetase Deficiency |
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Optic nerve hypoplasia |
OMIM:615574 |
Proximal Renal Tubular Acidosis |
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Coloboma, Cataract, Band keratopathy |
ORPHA:47159 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Optic nerve hypoplasia |
ORPHA:221139 |
Hydranencephaly |
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Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:619321 |
Kabuki Syndrome |
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Microcornea, Coloboma |
ORPHA:2322 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Optic disc pallor, Optic nerve hypoplasia, Attenuation of retinal blood vessels |
ORPHA:468631 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Buphthalmos, Keratoconjunctivitis sicca |
ORPHA:495875 |
Pancreatic And Cerebellar Agenesis |
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Optic nerve hypoplasia |
OMIM:609069 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Optic nerve hypoplasia |
OMIM:617506 |
Esophageal Atresia |
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Coloboma |
ORPHA:1199 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Coloboma, Cataract, Retinopathy |
ORPHA:353281 |
Marshall-Smith Syndrome |
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Optic nerve hypoplasia |
OMIM:602535 |
Renpenning Syndrome 1 |
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Coloboma, Cataract |
OMIM:309500 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Optic nerve hypoplasia |
ORPHA:457284 |
Microphthalmia, Syndromic 6 |
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Microcornea, Coloboma, Retinal dystrophy, Sclerocornea |
OMIM:607932 |
Rubinstein-Taybi Syndrome 1 |
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Coloboma, Cataract |
OMIM:180849 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Optic nerve hypoplasia |
ORPHA:226307 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Optic nerve hypoplasia |
OMIM:620025 |
Holoprosencephaly 9 |
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Optic nerve hypoplasia |
OMIM:610829 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Coloboma, Cataract, Corneal scarring |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Coloboma, Cataract, Corneal scarring |
ORPHA:353277 |
Baller-Gerold Syndrome |
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Astigmatism, Optic atrophy, Optic nerve hypoplasia |
OMIM:218600 |
Roberts-Sc Phocomelia Syndrome |
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Coloboma, Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Optic atrophy, Optic nerve hypoplasia |
ORPHA:500150 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Optic nerve hypoplasia |
OMIM:620330 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Coloboma |
OMIM:619534 |