Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Psychogenic Movement Disorders |
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Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
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Gait disturbance |
ORPHA:1429 |
Paragangliomas 6 |
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Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Stargardt Disease 1 |
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Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Macular Degeneration, Age-Related, 13 |
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Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Retinitis Pigmentosa 36 |
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Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Exudative Vitreoretinopathy 7 |
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Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 4 |
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Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
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Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
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Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Decreased activity of mitochondrial complex III, Impaired proprioception, Decreased activity of m... |
OMIM:500013 |
Exudative Vitreoretinopathy 3 |
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Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Late-Onset Retinal Degeneration |
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Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
X-Linked Retinal Dysplasia |
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Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Frontotemporal Dementia With Motor Neuron Disease |
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Global brain atrophy, Abnormal lower motor neuron morphology, Gliosis, Degeneration of the latera... |
ORPHA:275872 |
Familial Infantile Bilateral Striatal Necrosis |
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Gait ataxia, Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Choreoath... |
ORPHA:225154 |
Sporadic Creutzfeldt-Jakob Disease |
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Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis |
ORPHA:204 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Neuronal loss in central nervous system, Astrocytosis, Cerebral cortical atrophy, Gait disturbance |
OMIM:600795 |
Familial Drusen |
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Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Macular Degeneration, Age-Related, 1 |
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Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Inherited Creutzfeldt-Jakob Disease |
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Gait ataxia, Global brain atrophy, Chorea, Neuronal loss in central nervous system, Central nervo... |
ORPHA:282166 |
Birdshot Chorioretinopathy |
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Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Progressive Non-Fluent Aphasia |
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Lewy bodies, Frontotemporal cerebral atrophy, Abnormal lower motor neuron morphology, Neurofibril... |
ORPHA:100070 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape, Gait disturbance, Cerebral atrophy, Cerebellar atrophy, Unsteady gait |
ORPHA:412217 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Pigmentary retinopathy |
OMIM:610951 |
Reese Retinal Dysplasia |
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Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Retinitis Pigmentosa 70 |
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Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Retinitis Pigmentosa 50 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Gait ataxia, Abnormal mitochondrial shape, Diffuse cerebral atrophy, Ataxia, Cerebellar atrophy |
ORPHA:543470 |
Retinitis Pigmentosa 32 |
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Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Focal Cortical Dysplasia, Type Ii |
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Astrocytosis |
OMIM:607341 |
Behavioral Variant Of Frontotemporal Dementia |
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Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy |
ORPHA:275864 |
Diaminopentanuria |
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Neurodegeneration, Ataxia |
OMIM:222350 |
Barth Syndrome |
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Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
Spastic Paraplegia Type 7 |
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Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Cerebral cortical a... |
ORPHA:99013 |
Retinitis Pigmentosa 13 |
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Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
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Diabetes insipidus, Astrocytosis, Difficulty walking, Inability to walk |
OMIM:611087 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
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Neurodegeneration |
OMIM:613068 |
Oculorenocerebellar Syndrome |
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Retinal degeneration, Choreoathetosis |
OMIM:257970 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Loss of ambulation, Mitochondrial hypertrophy |
OMIM:619518 |
Supranuclear Palsy, Progressive, 1 |
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Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Neuronal loss in central nervous s... |
OMIM:601104 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Abnormal mitochondrial shape, Choreoathetosis, Decreased activity of mitochondrial complex III, D... |
ORPHA:17 |
Hsd10 Mitochondrial Disease |
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Choreoathetosis, Cerebral cortical atrophy, Abnormal mitochondrial morphology |
OMIM:300438 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Cerebellar atrophy, Abnormal mitochondrial shape |
ORPHA:485421 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Exudative Vitreoretinopathy 2, X-Linked |
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Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Decreased activity of mitochondrial complex IV, Bradykinesia, Increased mitochondrial number |
OMIM:619063 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number, Gait disturbance, Difficulty walking |
ORPHA:352470 |
Exudative Vitreoretinopathy 1 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Athetosis, Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Mitochondrial swelling |
OMIM:615595 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Dysdiadochokinesis, Ataxia, Dysmetria, Difficulty walking, Cerebellar atrophy, Atrophy/Degenerati... |
OMIM:612319 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Dysdiadochokinesis, Limb ataxia, Ataxia, De... |
OMIM:615157 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 3, Autosomal Dominant |
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Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
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Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
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Retinal detachment |
OMIM:617238 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Chorea, Cerebral cortical atrophy, Inability to walk, Ataxia, Cerebral atrophy, Cerebellar atroph... |
OMIM:617672 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Dysmetria, Hypersegmentation of neutrophil nuclei, Increased mitochondrial number, Macrocytic ane... |
OMIM:615578 |
Vitreoretinopathy, Neovascular Inflammatory |
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Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Neurodegeneration With Brain Iron Accumulation 6 |
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Tip-toe gait, Gait disturbance, Neurodegeneration, Bradykinesia |
OMIM:615643 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Cerebellar atrophy, U... |
OMIM:256600 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
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Gait ataxia, Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
Paragangliomas 3 |
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Glomus jugular tumor, Elevated circulating catecholamine level, Chemodectoma, Paraganglioma, Extr... |
OMIM:605373 |
Paragangliomas 1 |
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Glomus jugular tumor, Elevated circulating catecholamine level, Glomus tympanicum paraganglioma, ... |
OMIM:168000 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Dysdiadochokinesis, Truncal ataxia, Gait disturbance, Polycythemia, Difficulty walking, Astrocyto... |
ORPHA:309854 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Cerebellar atrophy, Neurodegeneration, Ataxia |
OMIM:615889 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Abnormal mitochondrial morphology |
OMIM:618528 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Ataxia, Neuronal loss in central nervous system, Cerebellar atrophy, Gliosis, Cerebral atrophy, C... |
OMIM:203700 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Impaired vibration sensation at ankles, Ataxia, Impaired proprioception, Dysmetria, Loss of ambul... |
OMIM:615491 |
Barth Syndrome |
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Fair hair, Gait disturbance, Hypochromic microcytic anemia, Cyclic neutropenia, Granulocytopenia,... |
OMIM:302060 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Neuronal loss in central nervous system, Decreased activity of mitochondrial complex IV, Gliosis,... |
OMIM:616239 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Gait ataxia, Lewy bodies, Chorea, Dysdiadochokinesis, Dysmetria, Neurofibrillary tangles, Cerebra... |
OMIM:610217 |
Chediak-Higashi Syndrome |
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Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... |
OMIM:214500 |
Pure Autonomic Failure |
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Abnormality of circulating catecholamine level |
ORPHA:441 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Lewy bodies, Gait disturbance, Ataxia, Abnormal lower motor neuron morphology, Loss of ambulation... |
OMIM:614298 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
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Lewy bodies, Bradykinesia |
OMIM:614251 |
Parkinson Disease 21 |
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Lewy bodies, Bradykinesia |
OMIM:616361 |
Hsd10 Disease, Infantile Type |
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Frontotemporal cerebral atrophy, Choreoathetosis, Diffuse cerebral atrophy, Loss of ambulation, C... |
ORPHA:391428 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Astrocytosis, Pontocerebellar atrophy, Inability to walk |
ORPHA:258 |
Cerebrooculofacioskeletal Syndrome 1 |
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Brain atrophy, Diffuse cerebral atrophy, Gliosis, Cerebellar atrophy, Neurodegeneration |
OMIM:214150 |
Adrenoleukodystrophy |
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Impaired vibration sensation at ankles, Hypogonadism, Truncal ataxia, Limb ataxia, Primary adrena... |
OMIM:300100 |
Cockayne Syndrome Type 3 |
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Brain atrophy, Premature graying of hair, Unsteady gait, Difficulty walking, Astrocytosis, Spleno... |
ORPHA:90324 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Gait ataxia, Chorea, Ataxia, Pancytopenia, Gliosis, Cerebral atrophy, Lethargy, Neurodegeneration |
OMIM:618321 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Akinesia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Bradykinesia |
OMIM:300894 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotropic hypogonadism |
ORPHA:352447 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Chorea, Choreoathetosis, Ataxia, Neurodegeneration, Bradykinesia |
OMIM:606159 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Global brain atrophy, Decreased activity of mitochondrial complex III, Diffuse cerebellar atrophy... |
ORPHA:478029 |
Krabbe Disease |
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Neurodegeneration, Diffuse cerebral atrophy, Autoimmune thrombocytopenia |
OMIM:245200 |
Amyotrophic Lateral Sclerosis |
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Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral sclerosis |
ORPHA:803 |
Ataxia-Telangiectasia-Like Disorder 2 |
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Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia |
OMIM:615919 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Gait ataxia, Hypothyroidism, Premature thelarche, Gait disturbance, Ataxia, Cerebral atrophy, Neu... |
OMIM:616878 |
Gm2 Gangliosidosis, Ab Variant |
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Chorea, Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Hypothyroidism, Diabetes mellitus, Increased mitochondrial number |
ORPHA:263297 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Gait disturbance, Neurodegeneration, Difficulty walking, Broad-based gait |
ORPHA:79244 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Global brain atrophy, Bradykinesia, Akinesia, Choreoathetosis, Gait disturbance, Ataxia, Cerebral... |
OMIM:234200 |
Gm2-Gangliosidosis, Ab Variant |
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Chorea, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Neurodegeneration, Difficulty walking, Ataxia |
OMIM:618476 |
Hereditary Late-Onset Parkinson Disease |
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Lewy bodies, Cerebral cortical atrophy, Shuffling gait, Akinesia, Gliosis, Bradykinesia |
ORPHA:411602 |
Parkinson Disease 17 |
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Bradykinesia, Akinesia |
OMIM:614203 |
Nijmegen Breakage Syndrome |
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Progressive vitiligo, Cafe-au-lait spot, T lymphocytopenia, B lymphocytopenia, Glioma, Retinal pi... |
OMIM:251260 |
Multiple System Atrophy 1, Susceptibility To |
|
Bradykinesia, Neurodegeneration, Ataxia |
OMIM:146500 |
Cerebral Visual Impairment |
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Central nervous system degeneration, Neurodegeneration |
ORPHA:447788 |
Mucopolysaccharidosis, Type Ii |
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Neurodegeneration, Splenomegaly, Abnormality of retinal pigmentation, Hepatosplenomegaly |
OMIM:309900 |
Mucopolysaccharidosis, Type Vii |
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Neurodegeneration, Splenomegaly |
OMIM:253220 |
Hurler Syndrome |
|
Neurodegeneration, Splenomegaly, Hepatosplenomegaly |
OMIM:607014 |
Von Hippel-Lindau Disease |
|
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Pancreatic islet cell adeno... |
ORPHA:892 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Hypopigmentation of the skin, Abnormality of skin pigmentation, Melanocytic nevus, Tip-toe gait, ... |
OMIM:619475 |
Primrose Syndrome |
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Hypothyroidism, Ataxia, Diabetes mellitus, Delayed puberty, Hypergonadotropic hypogonadism, Neuro... |
OMIM:259050 |