Leber Hereditary Optic Neuropathy, Modifier Of |
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Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
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Optic atrophy, Ataxia |
OMIM:136600 |
Retinitis Pigmentosa 42 |
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Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
Optic Atrophy 2 |
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Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
Retinitis Pigmentosa 36 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Leber Congenital Amaurosis 13 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Spastic Ataxia 7, Autosomal Dominant |
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Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
Auditory Neuropathy And Optic Atrophy |
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Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
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Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Ceroid Lipofuscinosis, Neuronal, 9 |
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Loss of ambulation, Rod-cone dystrophy, Optic atrophy, Ataxia |
OMIM:609055 |
Optic Atrophy--Spastic Paraplegia Syndrome |
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Optic atrophy |
OMIM:311100 |
Spastic Paraplegia 43, Autosomal Recessive |
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Loss of ambulation, Optic atrophy, Gait disturbance |
OMIM:615043 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
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Optic atrophy |
OMIM:165199 |
Optic Atrophy 9 |
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Optic disc pallor, Optic atrophy |
OMIM:616289 |
Retinitis Pigmentosa 71 |
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Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Leber Congenital Amaurosis 19 |
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Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
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Inability to walk, Optic atrophy |
OMIM:618572 |
Usher Syndrome, Type Iiib |
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Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels |
OMIM:614504 |
Glaucoma 1, Open Angle, P |
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Increased cup-to-disc ratio |
OMIM:177700 |
Ceroid Lipofuscinosis, Neuronal, 11 |
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Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614706 |
Retinitis Pigmentosa 30 |
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Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Spastic Paraplegia 57, Autosomal Recessive |
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Loss of ambulation, Optic atrophy |
OMIM:615658 |
Retinitis Pigmentosa 57 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
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Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
Retinitis Pigmentosa 33 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
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Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:2572 |
Developmental And Epileptic Encephalopathy 58 |
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Inability to walk, Abnormal repetitive mannerisms, Optic atrophy |
OMIM:617830 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
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Ataxia, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Ocular Pigment Dispersion With Or Without Glaucoma |
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Optic atrophy |
OMIM:600510 |
Striatonigral Degeneration, Infantile |
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Choreoathetosis, Optic atrophy, Dysphagia |
OMIM:271930 |
Peripheral Cone Dystrophy |
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Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Infantile-Onset Spinocerebellar Ataxia |
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Abnormality of the autonomic nervous system, Optic atrophy, Ataxia |
ORPHA:1186 |
Intracranial Hypertension, Idiopathic |
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Papilledema |
OMIM:243200 |
Asperger Syndrome, Susceptibility To, 1 |
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Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Retinitis Pigmentosa 81 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
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Optic atrophy |
ORPHA:2253 |
Central Retinal Vein Occlusion |
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Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Retinitis Pigmentosa 95 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
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Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
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Spastic ataxia, Optic atrophy, Gait disturbance |
OMIM:616859 |
Retinitis Pigmentosa 62 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Autosomal Recessive Spastic Paraplegia Type 57 |
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Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Optic Atrophy 3, Autosomal Dominant |
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Optic disc pallor, Optic atrophy |
OMIM:165300 |
Wagner Vitreoretinopathy |
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Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Retinitis Pigmentosa 63 |
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Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
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Optic disc pallor, Optic atrophy |
OMIM:618511 |
Liberfarb Syndrome |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
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Spastic gait, Optic atrophy, Severe temper tantrums |
OMIM:619052 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Retinitis Pigmentosa 50 |
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Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
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Gait ataxia, Peripheral axonal neuropathy, Optic atrophy, Dysphagia |
OMIM:620221 |
Spastic Paraplegia 74, Autosomal Recessive |
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Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Retinitis Pigmentosa 26 |
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Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Retinitis Pigmentosa 32 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
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Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith... |
OMIM:619389 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy, Spastic gait |
ORPHA:320396 |
Night Blindness, Congenital Stationary, Type 1G |
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Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
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Optic atrophy, Inappropriate laughter, Gait ataxia |
OMIM:619323 |
Retinitis Pigmentosa 11 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Autism, Susceptibility To, X-Linked 3 |
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Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
X-Linked Spinocerebellar Ataxia Type 3 |
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Optic atrophy, Ataxia |
ORPHA:85297 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Optic disc pallor, Retinal thinning, Ataxia |
OMIM:618970 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Truncal ataxia |
OMIM:611726 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... |
OMIM:311070 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Ataxia, Dysphagia |
ORPHA:1171 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:3151 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
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Optic atrophy |
OMIM:616370 |
Leukoencephalopathy With Vanishing White Matter 2 |
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Unsteady gait, Optic atrophy |
OMIM:620312 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Inability to walk, Optic atrophy |
OMIM:618768 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Camos Syndrome |
|
Optic atrophy, Ataxia |
ORPHA:83472 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Ataxia, Retinal telangiectasia |
ORPHA:104 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Irvan Syndrome |
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Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Leukoencephalopathy With Vanishing White Matter 4 |
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Unsteady gait, Optic atrophy |
OMIM:620314 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Merrf |
|
Optic atrophy, Ataxia |
ORPHA:551 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Peripheral axonal neuropathy, Optic atrophy, Difficulty walking |
ORPHA:468661 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia |
OMIM:619425 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... |
OMIM:204100 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia |
OMIM:617086 |
Nescav Syndrome |
|
Inability to walk, Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:614255 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia |
OMIM:613672 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:614296 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cerebellar at... |
OMIM:164500 |
Leber Congenital Amaurosis 14 |
|
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Peripheral axonal neuropathy, Optic atrophy, Difficulty walking |
ORPHA:320360 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Spastic gait |
OMIM:613162 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Optic atrophy, Ataxia, Aggressive behavior |
OMIM:300983 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Spastic Paraplegia 2, X-Linked |
|
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria |
OMIM:312920 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Impulsivity, Optic atrophy, Gait disturbance, Compulsive behaviors, Dysphagia, Violent behavior, ... |
ORPHA:216873 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Difficulty walking, Onion bulb formation |
OMIM:615035 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria |
OMIM:605259 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Head titubation, Optic atrophy, Ataxia, Dysmetria |
OMIM:618688 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Ath... |
ORPHA:382 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy |
ORPHA:1538 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... |
OMIM:617166 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrophy, Retinal degeneration |
OMIM:204200 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia |
OMIM:616732 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:617207 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Behr Syndrome |
|
Ataxia, Unsteady gait, Optic atrophy, Truncal ataxia, Dysmetria, Hypoplastic optic chiasm, Gait d... |
OMIM:210000 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Pseudobulbar paralysis, Attenuation of retinal blood vessels |
OMIM:617082 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Ataxia |
OMIM:258501 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Sensory axonal neuropathy, Ataxia, Dysphagia |
ORPHA:329314 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Optic atrophy, Leber optic atrophy, Dysphagia |
OMIM:500001 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy |
OMIM:619690 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:616204 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Optic atrophy, Choreoathetosis, Agitation, Retinal degeneration |
OMIM:300438 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... |
OMIM:610743 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Ataxia |
ORPHA:71518 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Macular degeneration, Ataxia, Optic atrophy, Retinal degeneration |
OMIM:256730 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:99014 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of ... |
ORPHA:33445 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Limb ataxia, Difficulty walking, Dysphagia, Jerky head movements, Spastic gait |
ORPHA:251282 |
Wolfram-Like Syndrome |
|
Progressive cerebellar ataxia, Peripheral axonal neuropathy, Optic atrophy |
ORPHA:411590 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy |
ORPHA:254343 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Att... |
ORPHA:216866 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Self-mu... |
OMIM:615075 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy, Ataxia |
OMIM:618248 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Inability to walk, Ataxia, Optic atrophy, Dysmetria |
OMIM:617954 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Optic atrophy, Bruxism, Choreoathetosis, Dysphagia, Retinopathy, Self-mutilation |
OMIM:619422 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait |
OMIM:617964 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation |
OMIM:618241 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
Optic Atrophy 1 |
|
Optic atrophy, Ataxia |
OMIM:165500 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis |
ORPHA:504476 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... |
ORPHA:644 |
Leber Optic Atrophy |
|
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... |
OMIM:535000 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... |
ORPHA:363429 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Hsd10 Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia |
ORPHA:391417 |
Developmental And Epileptic Encephalopathy 61 |
|
Loss of ambulation, Optic atrophy |
OMIM:617933 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Optic atrophy, Dysmetria, Gait ataxia |
OMIM:617810 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614559 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Optic atrophy, Ataxia |
OMIM:619310 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Optic atrophy, Difficulty walking |
ORPHA:330050 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Abnormal peripheral action... |
ORPHA:457205 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Dysphagia |
ORPHA:1177 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Peroxisome Biogenesis Disorder 8B |
|
Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-toe gait, Dy... |
OMIM:614877 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Ataxia |
ORPHA:79136 |
Severe Canavan Disease |
|
Inability to walk, Optic atrophy, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Abnormality of macular pigmentation... |
ORPHA:97229 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Dysphagia |
OMIM:614707 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy |
OMIM:274270 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Athetosis, Impaired oral bolus formation, Dysphagia |
OMIM:617235 |
L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy, Ataxia |
OMIM:236792 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dysphagia |
ORPHA:1947 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait |
ORPHA:99013 |
3-Methylglutaconic Aciduria, Type I |
|
Athetosis, Optic atrophy, Self-mutilation, Ataxia |
OMIM:250950 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... |
OMIM:607259 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Abnormal retinal morphology, Facial palsy, Optic atrophy, Optic neuritis, Shuffling gait,... |
ORPHA:254886 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait ataxia, Dysp... |
OMIM:601338 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... |
OMIM:271245 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss of ambulation |
ORPHA:225154 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Sensory... |
ORPHA:254881 |
Arts Syndrome |
|
Optic atrophy, Ataxia, Dysphagia |
OMIM:301835 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Inability to walk, Optic atrophy, Sensory axonal neuropathy, Motor axonal neur... |
OMIM:609541 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia |
OMIM:618233 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... |
OMIM:617302 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Optic atrophy, Ataxia |
OMIM:618174 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria |
OMIM:616680 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... |
OMIM:609033 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... |
OMIM:608804 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Abnormal retinal nerve fiber layer mo... |
ORPHA:1215 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Sarcosinemia |
|
Optic atrophy, Ataxia |
ORPHA:3129 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Ataxia, Optic disc pallor |
OMIM:615281 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking |
OMIM:612319 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Cln3 Disease |
|
Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Pigmentary retinopathy, Shuff... |
ORPHA:228346 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Progressive cerebellar ataxia, Optic atrophy, Gait ataxia |
ORPHA:466794 |
Spastic Paraplegia Type 2 |
|
Optic atrophy, Spastic gait, Ataxia |
ORPHA:99015 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait disturbance, Ga... |
ORPHA:98755 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor |
OMIM:614186 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Dysphagia |
OMIM:619686 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior |
ORPHA:329284 |
4H Leukodystrophy |
|
Ataxia, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Dysphagia |
ORPHA:289494 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Optic atrophy, Gait ataxia |
OMIM:618800 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Chorioretinal coloboma |
ORPHA:1473 |
Neuronal Intranuclear Inclusion Disease |
|
Optic atrophy, Ataxia |
ORPHA:2289 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Dy... |
OMIM:617282 |
Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, Optic disc pallor |
OMIM:619328 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms |
ORPHA:530983 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Unsteady gait, Optic atrophy, Ataxia |
ORPHA:401866 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation |
OMIM:617951 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Optic atrophy, Gait disturbance |
OMIM:603896 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrophy |
OMIM:612674 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Abnormal repetitive man... |
ORPHA:79264 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Difficulty walking, Abnormal repetitive mannerisms |
OMIM:617807 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Restlessness, Dysmetria, Gait ataxia, Gait disturbance, Jerky head movem... |
ORPHA:157941 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Dysphagia |
OMIM:618230 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Attention deficit hyperactivity disorder, Diff... |
ORPHA:442835 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Gait disturbance, Shuffling gait, Dysphagia, Motor axonal neuropathy |
ORPHA:289560 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Optic atrophy, Retinal dysplasia, Gait disturbance |
ORPHA:272 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:607694 |
Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy, Dysphagia |
ORPHA:137867 |
X-Linked Intellectual Disability, Najm Type |
|
Gait disturbance, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia |
OMIM:618249 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Progressive cerebellar ataxia, Optic atrophy |
ORPHA:263516 |
Proximal Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia |
ORPHA:401768 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Bulimia, Optic atrophy |
OMIM:614651 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G... |
ORPHA:35069 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:1173 |
Chromosome 19P13.13 Deletion Syndrome |
|
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Difficulty walking, Dysphagia |
ORPHA:98768 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Steppage gait, Ga... |
ORPHA:101076 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Developmental And Epileptic Encephalopathy 93 |
|
Inability to walk, Optic atrophy, Gait disturbance |
OMIM:618012 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Dysmetria, Gait atax... |
ORPHA:95 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Ataxia, Optic atrophy, Retinal degeneration |
OMIM:249270 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Peripheral axonal neuropathy, Unsteady gait, Optic atrophy, Progressive cerebella... |
ORPHA:137898 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacunae, Optic at... |
OMIM:152950 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal dystrophy, Anorexia |
ORPHA:49827 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Optic atrophy, Aggressive behavior |
ORPHA:369939 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Difficulty walking, Optic atrophy, Dysmetria, Gait ataxia |
ORPHA:529665 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Optic atrophy, Choreoathetosis, Dysphagia, Loss of ambulation, Rod-cone dystrophy, ... |
ORPHA:391428 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... |
ORPHA:254930 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Ataxia, Head titubation, Optic atrophy, Opto-chiasmatic atrophy, Dysmetria, Loss of ambulation |
OMIM:615491 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis |
OMIM:613559 |
Leukodystrophy, Hypomyelinating, 6 |
|
Choreoathetosis, Optic atrophy, Ataxia |
OMIM:612438 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Progressive gait ataxia, Broad-based gait |
ORPHA:157946 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Axona... |
OMIM:601152 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Ataxia, Aggressive behavior, Optic atrophy, Dysmetria, Athetosis, Rod-con... |
OMIM:617710 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Choreoathetosis, Inability to walk, Optic atrophy, Dysphagia |
OMIM:617664 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia |
OMIM:619259 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... |
OMIM:619260 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Progressive cerebellar ataxia, Optic atrophy, Dysphagia |
OMIM:618868 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
Triple A Syndrome |
|
Ataxia, Optic atrophy, Motor axonal neuropathy |
ORPHA:869 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Inability to walk, Optic atrophy, Shuffling gait, Attention ... |
ORPHA:52368 |
Wildervanck Syndrome |
|
Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Ataxia, Jerky head movements |
OMIM:245348 |
Mepan Syndrome |
|
Gait disturbance, Optic atrophy, Ataxia, Dysphagia |
ORPHA:508093 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Impulsivity, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, Reti... |
ORPHA:157850 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Truncal ataxia, Dysm... |
OMIM:164400 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ataxia |
OMIM:256600 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Infantile Refsum Disease |
|
Rod-cone dystrophy, Optic atrophy, Facial palsy, Ataxia |
ORPHA:772 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Difficult... |
ORPHA:95433 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Ataxia, Head titubation, Inability to walk, Optic atrophy, Choreoathetosis, Dys... |
OMIM:312080 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia |
OMIM:614381 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation |
OMIM:620089 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Juvenile Sialidosis Type 2 |
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Ataxia, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation, Cherry red spot of the macula |
ORPHA:93399 |
Aniridia 2 |
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Optic atrophy |
OMIM:617141 |
Angelman Syndrome |
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Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to wal... |
ORPHA:72 |
Joubert Syndrome 8 |
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Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:612291 |
Peroxisome Biogenesis Disorder 4B |
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Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ... |
OMIM:614863 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
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Spastic ataxia, Peripheral axonal neuropathy, Optic atrophy |
ORPHA:496756 |
Muscle-Eye-Brain Disease |
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Optic atrophy, Gait disturbance |
ORPHA:588 |
Osteopetrosis, Autosomal Recessive 4 |
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Optic disc pallor, Optic atrophy, Facial palsy |
OMIM:611490 |
Norrie Disease |
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Retinal detachment, Aggressive behavior, Optic atrophy, Retinal dysplasia, Retinal fold |
OMIM:310600 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Optic atrophy, Progressive gait ataxia, Falls, Dysphagia, Loss of ambulation |
ORPHA:329308 |
Retinitis Pigmentosa 74 |
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Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Choreoathetosis, Optic atrophy, Ataxia |
ORPHA:27 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology, Ataxia, Impulsivity, Optic atrophy, Gait disturbance, Los... |
OMIM:614298 |
Pelizaeus-Merzbacher Disease |
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Choreoathetosis, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:702 |
Pettigrew Syndrome |
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Aggressive behavior, Optic atrophy, Gait ataxia, Choreoathetosis, Self-injurious behavior, Stereo... |
OMIM:304340 |
Osteopetrosis, Autosomal Recessive 8 |
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Optic atrophy, Facial palsy |
OMIM:615085 |
Friedreich Ataxia |
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Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conduction velocity, Dec... |
OMIM:229300 |
Papilloma Of Choroid Plexus |
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Papilledema |
OMIM:260500 |
Cerebral Visual Impairment |
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Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
Metachromatic Leukodystrophy |
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Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Peripheral demyelin... |
OMIM:250100 |
Wolfram Syndrome 1 |
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Pigmentary retinopathy, Optic atrophy, Ataxia, Dysphagia |
OMIM:222300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia |
OMIM:610217 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Jerky head movements, Dysphagia |
ORPHA:240103 |
Jeavons Syndrome |
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Abnormal head movements |
ORPHA:139431 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Ataxia, Akinesia, Optic atrophy, Phonic tics, Choreoathetosis, Pigmentary retinopa... |
OMIM:234200 |
Chromosome Xp11.3 Deletion Syndrome |
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Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Choreoa... |
ORPHA:2715 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy |
OMIM:616811 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
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Broad-based gait, Optic atrophy |
OMIM:609037 |
Joubert Syndrome 1 |
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Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... |
OMIM:213300 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysphagia |
ORPHA:485421 |
Sturge-Weber Syndrome |
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Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... |
ORPHA:3205 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Mot... |
OMIM:231550 |
Stankiewicz-Isidor Syndrome |
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Hyperactivity, Abnormal optic disc morphology |
OMIM:617516 |
Fuchs Heterochromic Iridocyclitis |
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Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
Xeroderma Pigmentosum, Complementation Group B |
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Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610651 |
Ogden Syndrome |
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Abnormal head movements, Shuffling gait |
ORPHA:276432 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Ataxia, Pseudobulbar paralysis, Difficulty walking, Abnormality of central som... |
OMIM:213700 |
Childhood Absence Epilepsy |
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Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Optic atrophy, Ataxia |
OMIM:604121 |
Xq21 Microdeletion Syndrome |
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Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
New-Onset Refractory Status Epilepticus |
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Abnormal head movements |
ORPHA:363558 |
Wolfram Syndrome 2 |
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Optic atrophy, Optic neuropathy |
OMIM:604928 |
Phace Association |
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Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
7Q11.23 Microduplication Syndrome |
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Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... |
ORPHA:96121 |
Sympathetic Ophthalmia |
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Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Joubert Syndrome 21 |
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Ataxia, Optic atrophy, Megalopapilla, Dysphagia, Retinopathy |
OMIM:615636 |
Hyperoxaluria, Primary, Type I |
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Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy |
OMIM:259900 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Congenital stationary night blindness, Abnormal optic disc morphology |
ORPHA:293967 |
Sandifer Syndrome |
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Abnormal head movements |
ORPHA:71272 |
Cancer-Associated Retinopathy |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Abnormal ... |
ORPHA:508498 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy |
ORPHA:397715 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Jerky head movements |
ORPHA:369837 |