Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Macular Dystrophy, Vitelliform, 2 |
|
Abnormal electroretinogram, Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration... |
OMIM:153700 |
Occult Macular Dystrophy |
|
Abnormal multifocal electroretinogram, Macular dystrophy, Slow decrease in visual acuity |
OMIM:613587 |
Optic Atrophy 5 |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... |
OMIM:610708 |
Macular Dystrophy, Vitelliform, 4 |
|
Moderately reduced visual acuity, Drusen, Decreased Arden ratio of electrooculogram, Vitelliform-... |
OMIM:616151 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Abnormal electroretinogram, Optic atrophy, Reduced visual acuity, Attenuation of retinal blood ve... |
OMIM:165510 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Abnormal electroretinogram, Visual field defect, Rod-con... |
OMIM:613809 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Abnormal electroretinogram, Visual field defect, Rod-cone dys... |
OMIM:609923 |
Usher Syndrome, Type I |
|
Visual loss, Rod-cone dystrophy, Abnormal electroretinogram, Undetectable electroretinogram |
OMIM:276900 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Abnormal electroretinogram, Photophobia, Progres... |
OMIM:180020 |
Tritanopia |
|
Tritanomaly, Dyschromatopsia, Abnormal light-adapted electroretinogram, Color vision defect |
OMIM:190900 |
X-Linked Retinoschisis |
|
Abnormality of vision, Retinoschisis, Abnormal electroretinogram |
ORPHA:792 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Abnormal dark-adapted electroretinogram, Macular degener... |
ORPHA:85128 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Abnormal electroretinogram, Chorioretinal atrophy |
OMIM:136900 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ... |
OMIM:616648 |
Optic Atrophy 1 |
|
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit... |
OMIM:165500 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Abnormal electroretinogram, ... |
OMIM:613428 |
Choroideremia |
|
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormal electroretinogram, Abnormality ... |
ORPHA:180 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Photophobia, Visual impairment, ... |
ORPHA:1871 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Abnormal electroretinogram, Reduced visual acu... |
OMIM:613194 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Abnormal electroretinogram, Optic atrophy, Visual im... |
ORPHA:1574 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Abnormal electro... |
OMIM:613731 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Undetectable electroretinogram, Nycta... |
OMIM:609913 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Decreased light- and dark-adapted electroretinogram amplitude, Retinal degener... |
OMIM:618513 |
Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... |
OMIM:608133 |
Blue Cone Monochromatism |
|
Blue cone monochromacy, Abnormality of retinal pigmentation, Abnormal electroretinogram, Photopho... |
ORPHA:16 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Abnormal electroretinogram, Retinal dystrophy |
OMIM:607475 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten... |
ORPHA:141 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Undetectable light- and dark-adapted electroretinogram, Reduced visual a... |
OMIM:608194 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... |
OMIM:612657 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Ã…land Islands Eye Disease |
|
Hypoplasia of the fovea, Myopia, Abnormal electroretinogram, Difficulty adjusting from light to d... |
ORPHA:178333 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy, Visual impairment |
ORPHA:2246 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... |
OMIM:125250 |
Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... |
OMIM:613093 |
Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Decreased light- and dark-adapted elec... |
OMIM:613758 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina, Decreased light- ... |
OMIM:610445 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Abnormal electrooculogram, Pigmentary retinopathy |
OMIM:179840 |
Retinitis Pigmentosa 93 |
|
Constriction of peripheral visual field, Reduced visual acuity, Retinal dots, Rod-cone dystrophy,... |
OMIM:619845 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Constriction of peripheral visual field, Optic atrophy, Abno... |
ORPHA:1215 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Constriction of peripheral visual field, Undetectable light- and dark-adapted ... |
OMIM:608380 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... |
OMIM:180100 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Decreased l... |
OMIM:613341 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, T2 hypointense thalamus, Abnormality of pattern visual evoked potentials, Prog... |
ORPHA:1947 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... |
ORPHA:352731 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Undetectable light- and dark-adapted electroretinogram, ... |
OMIM:614180 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... |
ORPHA:179 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks, Decreas... |
OMIM:611809 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Abnormal electroretinogram, Vitritis, Myopia, Retinal pigment epithelial m... |
ORPHA:284454 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia, Hypoplasia of the pons, Abnorm... |
OMIM:617523 |
Retinitis Pigmentosa 44 |
|
Constriction of peripheral visual field, Decreased light- and dark-adapted electroretinogram ampl... |
OMIM:613769 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Abnormal light- and dark-adapted electroreti... |
OMIM:613801 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis... |
ORPHA:1852 |
Cone-Rod Dystrophy 19 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, High myopia, Perifoveal ring of hyperautofluoresc... |
OMIM:615860 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo... |
OMIM:601152 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormality of somatosensory evoked potentials, Cerebral vis... |
ORPHA:52368 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Undetectable light- and d... |
OMIM:604393 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete... |
ORPHA:436245 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... |
OMIM:609021 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... |
OMIM:180104 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Myopia, Abnormal electroretinogram, Optic atrophy |
ORPHA:2971 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnormal thalamic MRI sign... |
ORPHA:485421 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Leber Congenital Amaurosis 5 |
|
Visual loss, Hypermetropia, High hypermetropia, Visual impairment, Undetectable electroretinogram |
OMIM:604537 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electroretinogra... |
OMIM:613810 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Nyctalopia, Visual ... |
ORPHA:96 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
Night Blindness, Congenital Stationary, Type 1C |
|
Congenital stationary night blindness, Myopia, Abnormal electroretinogram, Reduced visual acuity |
OMIM:613216 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... |
OMIM:605750 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Blindness, Visual loss, Optic atrophy, Undetectable visual evoked potentials, Progressive visual ... |
OMIM:601338 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio... |
ORPHA:99000 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... |
OMIM:610478 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment |
OMIM:600790 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electroretinogram, Peripheral visua... |
OMIM:613767 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Abnormal electroretinogram, Visual impairment, Abnormality o... |
ORPHA:1933 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Visual loss, Central scotoma,... |
OMIM:604116 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Undetectable electroretinogram, Progressive visual loss, Retinal degeneration |
OMIM:204500 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Myopia, Cerebral visual impairment, Abnormal electroretinogram, Optic atrophy, Hypermetropia, Abn... |
OMIM:616875 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Visual loss, Optic atrophy, Abnormality of visual evoked pot... |
OMIM:256600 |
Central Retinal Vein Occlusion |
|
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... |
ORPHA:411527 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... |
OMIM:617879 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Cerebral visual impairment |
ORPHA:1389 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... |
OMIM:300843 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Blindness, Undetectable light- and dark-adapted electroretinogram, Fundus atro... |
OMIM:204100 |
Friedreich Ataxia |
|
Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential... |
OMIM:229300 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormal electroretinogram, Abnorma... |
OMIM:125310 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:600132 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Abnormal electroretinogram, Facial palsy |
ORPHA:2743 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... |
ORPHA:168491 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Abnormal light-adapted flicker electroretinogram, Nyctalopia, Reduced visual acui... |
OMIM:610024 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Blindness, Optic at... |
OMIM:245200 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Undetectable electroretinogram, Optic atrophy, Reduced visual acuity, Macular degenera... |
OMIM:204200 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund... |
OMIM:613835 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... |
OMIM:613464 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Abnormality of pattern visual evoked potentials, Reduced visual acuity |
ORPHA:357225 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali... |
ORPHA:79431 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal flash visual evoked potentials, Optic atrophy, Abnormal brainstem morphology, Atrophy/De... |
ORPHA:98755 |
Leber Congenital Amaurosis 6 |
|
Photophobia, High hypermetropia, Severely reduced visual acuity, Undetectable electroretinogram, ... |
OMIM:613826 |
Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy, Reduced visual acuity |
ORPHA:508093 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Constriction of peripheral visual field, Pigmentary retinopathy, Decreased lig... |
OMIM:612572 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Undetectable electroretinogram, Optic atrophy, Macular degeneration, Progressive visua... |
OMIM:256730 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... |
OMIM:600059 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, H... |
ORPHA:370959 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Undetectable visual evoked potentials, Abnormal brainstem morphology, Chorioretinal coloboma |
ORPHA:163961 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Midline brainstem cleft, Agenesis of corpus callosum, Hypop... |
OMIM:617542 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume |
OMIM:613668 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Myopia, Abnormal auditory evoked potentials, Abnormality of ... |
OMIM:601455 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... |
ORPHA:52427 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy, Visual impairment |
ORPHA:702 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Optic atrophy |
OMIM:619057 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206443 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Myopia, Optic atrophy, Cerebral visual impairment |
ORPHA:480898 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa... |
ORPHA:79264 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormal substantia nigra morphology, Abnormality of pattern visual evok... |
ORPHA:2822 |
Infantile Neuroaxonal Dystrophy |
|
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of visual evo... |
ORPHA:35069 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cerebral visual impairment, Optic atrophy, Retinal coloboma,... |
ORPHA:2510 |
Spinocerebellar Ataxia With Epilepsy |
|
Hemianopia, Focal T2 hyperintense thalamic lesion, Optic atrophy |
ORPHA:254881 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume |
OMIM:619072 |
Cach Syndrome |
|
Blindness, T2 hypointense thalamus, Optic atrophy, Lateral ventricle dilatation, Abnormal pons mo... |
ORPHA:135 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Photophobia, Abnormality of visual evoked potentials, High myopia |
OMIM:614457 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal brainstem MRI signal intensity, Optic atrophy, Abnormal thalamic MRI signal intensity, V... |
ORPHA:254930 |
Oligocone Trichromacy |
|
Photophobia, Abnormal electroretinogram |
ORPHA:75378 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Undetectable light- and dark-adapted electroretinogram, ... |
OMIM:611131 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... |
OMIM:267760 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206436 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brainstem morphology |
ORPHA:467166 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Abnormal electroretinogram, ... |
ORPHA:65 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Abnormal el... |
ORPHA:791 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Abnormal electroretinogram, Retinal degeneration |
OMIM:617173 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Nyctalopia, Abnormal electroretinogram, Abnormality of pattern visual evoked potentials, Visual f... |
ORPHA:166035 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Optic disc pallor |
ORPHA:314389 |
White-Sutton Syndrome |
|
Myopia, Optic nerve hypoplasia, Mild myopia, Abnormal electroretinogram, Hypermetropia, Abnormali... |
OMIM:616364 |
Peho Syndrome |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:260565 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration... |
OMIM:614292 |
Enhanced S-Cone Syndrome |
|
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis,... |
OMIM:268100 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... |
ORPHA:309256 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... |
OMIM:264420 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... |
ORPHA:423479 |
Usher Syndrome Type 3 |
|
Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia, High hypermetropia |
ORPHA:231183 |
Cln5 Disease |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:228360 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Undetectable visual evoked potentials, Visual loss, Cerebral visual impairment |
OMIM:619051 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... |
ORPHA:309263 |
Adenohypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95512 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Panhypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95513 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... |
OMIM:216900 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... |
ORPHA:5 |
Mpdu1-Cdg |
|
Undetectable visual evoked potentials, Optic atrophy, Decreased response to growth hormone stimul... |
ORPHA:79323 |
Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Abnormal electroreti... |
OMIM:304700 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Blindness, Constriction of peripheral visual field, Undetectable electroretinogr... |
OMIM:300578 |
Usher Syndrome Type 1 |
|
Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia, High hypermetropia |
ORPHA:231169 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
Joubert Syndrome 3 |
|
Retinal dystrophy, Abnormal electroretinogram, Pigmentary retinopathy, Lateral ventricle dilatati... |
OMIM:608629 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
Van Den Bosch Syndrome |
|
Choroideremia, Abnormal electroretinogram, High myopia |
ORPHA:3417 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, Ab... |
ORPHA:1390 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram |
ORPHA:3121 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Visual loss, Partial agenesis of the corpus callosum, Abnormal best corre... |
ORPHA:300570 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... |
ORPHA:309271 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology |
ORPHA:88619 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Abnormal electroretinogram |
OMIM:616781 |
Hermansky-Pudlak Syndrome |
|
Myopia, Amblyopia, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormality of ... |
ORPHA:79430 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Visual impairment |
ORPHA:444013 |
Leber Congenital Amaurosis 7 |
|
Photophobia, Undetectable electroretinogram, Visual impairment |
OMIM:613829 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... |
OMIM:616468 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Myopia, Hemianopia, Abnormal thalamus morphology, Hypermetropia |
ORPHA:404440 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... |
OMIM:613843 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Abnormal electroretinogram, Optic atrophy, Visual impairment |
ORPHA:1154 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology |
ORPHA:557003 |
Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Blindness, Ring scotoma, Decreased sensory nerve conduct... |
OMIM:609033 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal cerebellar peduncle morphology, Optic neuropathy, Abnormal auditory e... |
ORPHA:909 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Retinal dysplasia, Undetectable electroretinogram |
OMIM:615665 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Septo-optic dysplasia, Aganglionic megacolon, Abnormality o... |
ORPHA:59315 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Hydranencephaly |
|
Blindness, Optic nerve hypoplasia, Thalamic edema, Chorioretinal atrophy, Abnormality of vision, ... |
ORPHA:2177 |
Mogs-Cdg |
|
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy |
ORPHA:79330 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopia, Abnormal electroretinogram |
ORPHA:1369 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Optic atrophy, Undetectable visual evoked potentials, Severely r... |
OMIM:259720 |
Cockayne Syndrome A |
|
Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina... |
OMIM:216400 |
Warburg Micro Syndrome 2 |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:614225 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Ab... |
ORPHA:79139 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Abnormal brainstem MRI signal intensity, Facial palsy, P... |
ORPHA:258 |
Developmental And Epileptic Encephalopathy 28 |
|
Abnormal electroretinogram, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Hypoplasia of the brainstem, Optic disc hypoplasia, Molar t... |
OMIM:619306 |
Meningioma |
|
Papilledema, Enlarged pituitary gland, Bitemporal hemianopia, Blindness, Facial palsy, Reduced ci... |
ORPHA:2495 |
Acute Disseminated Encephalomyelitis |
|
Abnormal brainstem MRI signal intensity, Visual loss, Optic neuritis, Abnormal thalamic MRI signa... |
ORPHA:83597 |
Joubert Syndrome 6 |
|
Blindness, Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Chorioretinal col... |
OMIM:610688 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Retinal dystrophy, Reduced visual acuity |
OMIM:617622 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hypermet... |
OMIM:133540 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Abnormal thalamic MRI signal intensity... |
ORPHA:48818 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Retinopathy |
OMIM:617562 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy |
ORPHA:1173 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Visual impairment, Abnormality of visual evoked potentials |
ORPHA:512 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Retinal dystrophy, Cerebral visual impairment |
OMIM:612285 |
Neuroferritinopathy |
|
T2 hypointense thalamus, Iron accumulation in substantia nigra, Abnormal thalamic MRI signal inte... |
ORPHA:157846 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology, Progressive visual loss |
ORPHA:2959 |
3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
Leigh Syndrome |
|
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesion, Optic atrophy, A... |
ORPHA:506 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Myopia, Retinal atrophy, Undetectable electroretinogram, Optic atrophy, Hypoplasia of the retina,... |
OMIM:253280 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Abnormal electroretinogram, V... |
ORPHA:886 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Reduced visual acuity, Optic disc pallor, Abnormal electroretinogram, Small pituitary gland |
OMIM:614195 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Tay-Sachs Disease |
|
Blindness, Optic atrophy, Abnormal thalamic MRI signal intensity, Cherry red spot of the macula, ... |
ORPHA:845 |
Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Bitemporal hemianopia, Abnormal visual field test, Neoplas... |
ORPHA:54595 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials, Optic nerve compression, Visual impairment |
ORPHA:667 |
Mucolipidosis Type Iv |
|
Photophobia, Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinopathy |
ORPHA:578 |
Usher Syndrome Type 2 |
|
Myopia, Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia |
ORPHA:231178 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinal fold, Hypermetropia |
OMIM:108145 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment |
OMIM:203700 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Undetectable visual evoked potentials, Optic disc pallor, Blindness, Optic neuropathy |
OMIM:252010 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Photophobia, Abnormality of the diencephalon, Ocular albinism, Abnormal brainstem morphology |
ORPHA:2720 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529799 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology |
ORPHA:280195 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholo... |
ORPHA:314621 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Diplopia, Abnormal thalamic MRI signal i... |
ORPHA:79138 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Rod-cone dystrophy, Abnormal electroretinogram, Progressive visual loss |
ORPHA:96181 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Vitreous hemorrhage, Retinal hemorrhage |
ORPHA:464321 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Abnormal retinal morphology |
OMIM:614615 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Abnormal electroretinogram, Retinal degeneration |
ORPHA:542306 |
Holoprosencephaly 7 |
|
Partial agenesis of the corpus callosum, Panhypopituitarism, Hypoplasia of the brainstem, Fusion ... |
OMIM:610828 |
Amoebiasis Due To Free-Living Amoebae |
|
Blindness, Abnormal medulla oblongata morphology, Facial palsy, Abnormal midbrain morphology, Abn... |
ORPHA:68 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... |
ORPHA:206448 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem, Abnormal midbrain mor... |
ORPHA:356961 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy, Abnormal electroretinogram |
ORPHA:110 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Hypermetropia... |
OMIM:619476 |
Machado-Joseph Disease |
|
Diplopia, Abnormal electrooculogram, Abnormal autonomic nervous system physiology |
OMIM:109150 |
Joubert Syndrome 5 |
|
Reduced visual acuity, Retinal coloboma, Molar tooth sign on MRI, Congenital blindness, Rod-cone ... |
OMIM:610188 |
Congenital Fibrosis Of Extraocular Muscles |
|
Abnormal visual field test, Optic nerve hypoplasia, Amblyopia, Abnormal electroretinogram, Abnorm... |
ORPHA:45358 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume |
ORPHA:168577 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum |
OMIM:618929 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Neuro... |
ORPHA:191 |
Norrie Disease |
|
Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula... |
ORPHA:649 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Abnormal electroretinogram, Pigmentary retinopathy |
OMIM:214100 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Myopia, Abnormal electroretinogram, Abnormality of vision, C... |
ORPHA:636 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology |
ORPHA:444072 |
Williams Syndrome |
|
Myopia, Retinal arteriolar tortuosity, High hypermetropia, Abnormality of the diencephalon, Visua... |
ORPHA:904 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal midbrain morphology, Adrenocortic... |
ORPHA:293987 |
Degcags Syndrome |
|
Abnormal electroretinogram, Agenesis of corpus callosum |
OMIM:619488 |