Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613582 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Congenital stationary night blindness |
OMIM:616389 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Glaucoma-Related Pigment Dispersion Syndrome |
|
Optic atrophy |
OMIM:600510 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy, Cranial nerve compression |
OMIM:250450 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... |
OMIM:616394 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... |
OMIM:607921 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:613862 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy |
OMIM:615658 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:617087 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614181 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:165300 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Nanophthalmos 4 |
|
Optic disc drusen |
OMIM:615972 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, Optic neuritis |
OMIM:165200 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... |
ORPHA:231736 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... |
OMIM:165550 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy |
OMIM:614296 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic atrophy, Optic disc pallor |
OMIM:615722 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Retinal dystrophy, Optic disc pallor |
OMIM:616079 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Photoreceptor layer loss on macu... |
OMIM:609913 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy |
OMIM:618572 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:600138 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:608553 |
Birdshot Chorioretinopathy |
|
Optic disc pallor, Photoreceptor layer loss on macular OCT, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... |
OMIM:617123 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Irvan Syndrome |
|
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... |
ORPHA:209943 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
Optic Atrophy 9 |
|
Optic atrophy |
OMIM:616289 |
Isolated Oxycephaly |
|
Papilledema |
ORPHA:63440 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:601718 |
Neurodegeneration With Brain Iron Accumulation |
|
Optic atrophy, Retinopathy |
ORPHA:385 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of peripheral nerve conduction, Optic atrophy |
ORPHA:431329 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy |
ORPHA:1538 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Cavitary Optic Disc Anomalies |
|
Peripapillary atrophy |
OMIM:611543 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy |
ORPHA:320396 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor |
OMIM:614504 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor |
OMIM:617460 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy |
OMIM:611726 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Camos Syndrome |
|
Optic atrophy |
ORPHA:83472 |
Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy |
OMIM:616881 |
Retinohepatoendocrinologic Syndrome |
|
Optic disc pallor, Cone dystrophy |
OMIM:268040 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy |
OMIM:616188 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Jalili Syndrome |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:217080 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy |
ORPHA:2572 |
Merrf |
|
Optic atrophy |
ORPHA:551 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Rod-cone dystrophy, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Morning glory anomaly, Optic disc coloboma, Remnants of the hyaloid vascu... |
OMIM:120200 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy |
OMIM:616171 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:615434 |
Developmental And Epileptic Encephalopathy 61 |
|
Optic atrophy |
OMIM:617933 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Optic atrophy |
OMIM:616859 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy |
OMIM:613162 |
Periventricular Nodular Heterotopia 7 |
|
Optic atrophy |
OMIM:617201 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy |
ORPHA:496756 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia |
ORPHA:104 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Optic atrophy, Peripheral axonal neuropathy |
ORPHA:468661 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Optic atrophy, Decreased motor nerve conduction velocity, Axonal degenerati... |
OMIM:609260 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Optic atrophy, Retinal arteriolar constriction |
OMIM:249660 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy |
OMIM:300928 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Peripheral axonal neuropathy, Optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619389 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic atrophy, Optic disc pallor |
OMIM:618776 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... |
OMIM:300476 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy |
OMIM:615035 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Nescav Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:614255 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy |
OMIM:617830 |
Retinitis Pigmentosa 46 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:612572 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood v... |
OMIM:604116 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy |
OMIM:619052 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Vitreoretinopathy, Abnormality of the optic disc, Retinal vascular tortuosity |
ORPHA:440727 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity |
ORPHA:98890 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy |
OMIM:619323 |
Leber Congenital Amaurosis 14 |
|
Retinal dystrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:613341 |
Retinitis Pigmentosa 41 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:612095 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy |
ORPHA:1171 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613617 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Peripheral vitreous opacit... |
ORPHA:137902 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:617207 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Cherubism |
|
Optic atrophy |
ORPHA:184 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor |
OMIM:614186 |
Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy |
OMIM:619303 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Peripapillary atrophy, Rod-cone dystrophy |
OMIM:616469 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy |
OMIM:602271 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... |
OMIM:602772 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Optic disc pallor |
OMIM:616732 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy |
ORPHA:1513 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Chorioretinal coloboma, Iris coloboma |
ORPHA:1473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
Neuroectodermal Melanolysosomal Disease |
|
Aplasia/Hypoplasia of the macula, Optic atrophy, Macular dystrophy, Abnormality of the optic nerve |
ORPHA:33445 |
Null Syndrome |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Peripheral demyelination, Decreased ne... |
ORPHA:280234 |
Retinitis Pigmentosa 10 |
|
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:180105 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Optic atrophy, Retinal vascular tortuosity |
OMIM:618768 |
Wildervanck Syndrome |
|
Facial palsy, Pseudopapilledema, Lens subluxation |
ORPHA:3456 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Rod-cone dystrophy, Macular degeneration |
OMIM:204200 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Optic atrophy |
OMIM:617086 |
Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy |
OMIM:615338 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor |
OMIM:612989 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:619425 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Facial diplegia, Optic atrophy, Papilledema |
OMIM:122860 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Exudative vitreoretinopathy, Optic atrophy |
OMIM:615075 |
Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:616648 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy |
OMIM:258501 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Optic atrophy |
OMIM:618229 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Macular degeneration |
OMIM:256730 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Microphthalmia, Isolated 8 |
|
Coloboma, Retinal detachment, Optic nerve hypoplasia |
OMIM:615113 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:613810 |
Gm1-Gangliosidosis, Type Ii |
|
Optic atrophy |
OMIM:230600 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:613581 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Optic atrophy |
OMIM:618324 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy |
OMIM:618228 |
Sclerosteosis |
|
Optic atrophy, Facial palsy |
ORPHA:3152 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic atrophy |
OMIM:617282 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy |
ORPHA:1021 |
Leber Optic Atrophy |
|
Leber optic atrophy, Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity |
OMIM:535000 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Sensory axonal neuropathy |
ORPHA:329314 |
Optic Atrophy 1 |
|
Optic atrophy |
OMIM:165500 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory axonal neuro... |
ORPHA:457205 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Motor axonal neuropathy, Optic atrophy, Optic disc pallor, Sensory axonal neuropathy |
OMIM:609541 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Optic disc coloboma, Lens subluxation, Retinal coloboma |
OMIM:216820 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Juvenile Glaucoma |
|
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Increased cup-to-di... |
ORPHA:98977 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy |
OMIM:613151 |
Behr Syndrome |
|
Optic atrophy |
OMIM:210000 |
Leber Congenital Amaurosis |
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Abnormality of retinal pigmentation, Abnormality of the optic disc |
ORPHA:65 |
Congenital Hydrocephalus |
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Optic atrophy, Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Optic atrophy |
ORPHA:352682 |
Hypervitaminosis A, Susceptibility To |
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Papilledema |
OMIM:240150 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
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Optic disc pallor |
OMIM:618527 |
Norrie Disease |
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Optic atrophy, Retinal detachment, Retinal fold, Retinal dysplasia |
OMIM:310600 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
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Optic atrophy |
OMIM:618236 |
Leber Congenital Amaurosis 15 |
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Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy |
OMIM:613843 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Diencephalic Syndrome |
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Optic atrophy |
ORPHA:1672 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
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Optic atrophy, Abnormal nerve conduction velocity |
ORPHA:99014 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Optic atrophy |
OMIM:248000 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy |
OMIM:614651 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Optic atrophy, Temporal optic disc pallor, Motor axonal neuropathy, Absent brainstem auditory res... |
ORPHA:1215 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination |
OMIM:258650 |
Spastic Paraplegia 2, X-Linked |
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Optic atrophy |
OMIM:312920 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia |
ORPHA:1528 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy |
OMIM:615597 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Wolfram-Like Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy |
ORPHA:411590 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:615233 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Facial palsy |
OMIM:615085 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Optic atrophy |
OMIM:270500 |
Dermoid Cysts, Familial Frontonasal |
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Papilledema |
OMIM:600679 |
Developmental And Epileptic Encephalopathy 93 |
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Optic atrophy, Iris coloboma |
OMIM:618012 |
Narp Syndrome |
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Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
Pontocerebellar Hypoplasia, Type 9 |
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Optic atrophy, Peripheral axonal neuropathy |
OMIM:615809 |
Optic Pathway Glioma |
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Optic atrophy, Papilledema, Neurofibromas |
ORPHA:2086 |
3-Methylglutaconic Aciduria, Type Ix |
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Optic atrophy |
OMIM:617698 |
Beta-Propeller Protein-Associated Neurodegeneration |
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Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Riboflavin Transporter Deficiency |
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Optic disc pallor, Abnormal cranial nerve morphology, Facial palsy, Abnormality of macular pigmen... |
ORPHA:97229 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Retinal dystrophy |
OMIM:614877 |
Sarcosinemia |
|
Optic atrophy |
ORPHA:3129 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration |
OMIM:300438 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... |
ORPHA:320406 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Optic disc pallor, Facial palsy |
OMIM:611490 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Lissencephaly 8 |
|
Optic atrophy |
OMIM:617255 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy |
ORPHA:254343 |
Retinitis Pigmentosa |
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Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:791 |
Triple A Syndrome |
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Optic atrophy, Motor axonal neuropathy, Iris coloboma |
ORPHA:869 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
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Optic disc pallor, Cherry red spot of the macula |
OMIM:615281 |
Schindler Disease, Type I |
|
Optic atrophy |
OMIM:609241 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... |
OMIM:609033 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Peripheral demyelination |
OMIM:618237 |
Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy |
ORPHA:137867 |
Neuronal Intranuclear Inclusion Disease |
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Optic atrophy |
ORPHA:2289 |
Srd5A3-Cdg |
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Coloboma, Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy |
ORPHA:324737 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... |
ORPHA:364055 |
Wolfram Syndrome, Mitochondrial Form |
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Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Zika Virus Disease |
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Macular atrophy, Lens subluxation, Optic disc hypoplasia, Abnormality of the optic disc, Retinal ... |
ORPHA:448237 |
Leukodystrophy, Hypomyelinating, 2 |
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Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy, Sensory axonal neuropathy |
OMIM:608804 |
X-Linked Intellectual Disability, Najm Type |
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Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy |
OMIM:618688 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Optic atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy |
OMIM:612674 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy |
OMIM:300475 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Krabbe Disease |
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Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:245200 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor |
ORPHA:3173 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy |
OMIM:618253 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal dystrophy |
ORPHA:49827 |
Leber Optic Atrophy And Dystonia |
|
Leber optic atrophy, Optic atrophy |
OMIM:500001 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic atrophy, Optic neuropathy |
OMIM:618249 |
Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor |
OMIM:619328 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... |
OMIM:601152 |
Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Peripheral axonal neuropathy |
ORPHA:401768 |
Hyperostosis Cranialis Interna |
|
Optic atrophy, Facial palsy |
OMIM:144755 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
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Optic atrophy |
OMIM:618346 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Glial remnants anterior to the optic disc, Macular h... |
ORPHA:91495 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... |
OMIM:616959 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Optic atrophy |
OMIM:618800 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:249270 |
Arts Syndrome |
|
Optic atrophy |
OMIM:301835 |
Woods Syndrome |
|
Optic atrophy |
OMIM:615236 |
Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:617276 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy |
OMIM:605259 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor |
OMIM:616204 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Facial diplegia, Optic atrophy |
OMIM:613559 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Spastic Paraplegia Type 2 |
|
Optic atrophy |
ORPHA:99015 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2801 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor |
OMIM:617166 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor |
OMIM:619170 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Optic neuropathy, Axonal degeneration, Retinopathy |
OMIM:616811 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Optic atrophy |
OMIM:618233 |
Cerebral Visual Impairment |
|
Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Optic nerve hypoplasia, Increased c... |
ORPHA:447788 |
Distal Monosomy 13Q |
|
Optic atrophy, Iris coloboma |
ORPHA:1590 |
Aica-Ribosuria Due To Atic Deficiency |
|
Optic atrophy |
OMIM:608688 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, Ma... |
OMIM:619260 |
Canavan Disease |
|
Optic atrophy |
OMIM:271900 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Macular hypoplasia, Iris coloboma |
OMIM:615219 |
Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Retinal dystrophy |
OMIM:614559 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy |
ORPHA:504476 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Retinal fold, Iris coloboma |
OMIM:221900 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic neuropathy, Optic disc pallor |
ORPHA:101076 |
Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Cranial nerve compression, Facial paralysis |
OMIM:259710 |
Stt3B-Cdg |
|
Optic atrophy |
ORPHA:370924 |
Wolfram Syndrome 2 |
|
Optic atrophy, Optic neuropathy |
OMIM:604928 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Optic disc pallor |
OMIM:617762 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Retinal dystrophy, Macular coloboma, Optic disc pallor, Aplasia/Hypoplasia of the optic nerve |
ORPHA:423479 |
Neurofibromatosis Type 2 |
|
Abnormality of the optic nerve, Facial palsy, Peripheral Schwannoma, Bilateral vestibular Schwann... |
ORPHA:637 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Optic atrophy, Facial palsy |
OMIM:218400 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Onion bulb formation, Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocity |
ORPHA:320375 |
Idiopathic Anterior Uveitis |
|
Increased cup-to-disc ratio, Macular edema |
ORPHA:280914 |
Dysosteosclerosis |
|
Optic atrophy, Abnormal cranial nerve morphology |
ORPHA:1782 |
Hermansky-Pudlak Syndrome 8 |
|
Optic disc pallor, Hypoplasia of the fovea, Ocular albinism |
OMIM:614077 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity |
ORPHA:485421 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy |
OMIM:604121 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment |
ORPHA:2714 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Motor axonal neuropathy, Abnormal autonomic nervous syste... |
OMIM:231550 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:250100 |
Spinocerebellar Ataxia Type 13 |
|
Optic atrophy, Optic disc pallor |
ORPHA:98768 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked pot... |
ORPHA:1187 |
Peroxisome Biogenesis Disorder 4B |
|
Optic atrophy, Retinal dystrophy, Decreased nerve conduction velocity, Rod-cone dystrophy |
OMIM:614863 |
Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Optic neuropathy, Retinal crystals, Choroidal neovascularization, Retinopathy |
OMIM:259900 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Abnormality of the optic disc |
ORPHA:363417 |
Sturge-Weber Syndrome |
|
Optic atrophy, Iris coloboma, Abnormal retinal vascular morphology, Retinal detachment, Abnormal ... |
ORPHA:3205 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Iris coloboma |
ORPHA:3301 |
Phace Association |
|
Optic atrophy, Optic nerve hypoplasia, Horner syndrome, Increased retinal vascularity |
OMIM:606519 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy |
OMIM:610651 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the optic disc, Congenital stationary night blindness |
ORPHA:293967 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Optic atrophy |
OMIM:609037 |
Stankiewicz-Isidor Syndrome |
|
Abnormality of the optic disc |
OMIM:617516 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy |
ORPHA:95433 |
Peroxisome Biogenesis Disorder 1B |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:601539 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Retinal coloboma, Optic nerve hypoplasia, Abnormality of the optic disc, Facial palsy, Iris colob... |
ORPHA:508498 |
Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Retinal capillary hemangioma, Macular edema... |
ORPHA:892 |
Cancer-Associated Retinopathy |
|
Optic atrophy, Optic disc pallor, Granular macular appearance, Retinal pigment epithelial atrophy... |
ORPHA:71505 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Retinal vascular tortuosity, Rod-cone dystrophy |
OMIM:619471 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Subretinal deposits, Retinal dystrophy, Abnormality of the optic disc |
ORPHA:397715 |
Norrie Disease |
|
Optic atrophy, Ectopia lentis, Abnormal retinal vascular morphology, Retinal detachment, Abnormal... |
ORPHA:649 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Papilledema |
OMIM:108050 |
7Q11.23 Microduplication Syndrome |
|
Abnormality of the optic disc |
ORPHA:96121 |
Pineoblastoma |
|
Papilledema, Retinoblastoma |
ORPHA:251909 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Papilledema |
OMIM:127000 |
Microphthalmia, Syndromic 2 |
|
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma |
OMIM:300166 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Lens coloboma, Hypoplasia of the fovea, Iris coloboma |
OMIM:619539 |
Degcags Syndrome |
|
|
OMIM:619488 |