Photoparoxysmal Response 1 |
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EEG with photoparoxysmal response |
OMIM:132100 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
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EEG abnormality |
OMIM:130200 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
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EEG abnormality |
OMIM:130300 |
Optic Atrophy 5 |
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Constriction of peripheral visual field, Central scotoma, Abnormality of pattern visual evoked po... |
OMIM:610708 |
Optic Atrophy 1 |
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Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Abnormal amplitude of pattern ... |
OMIM:165500 |
Optic Atrophy 8 |
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Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment |
OMIM:616648 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
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Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Stargardt Disease |
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Central scotoma, Nyctalopia, Reduced visual acuity, Abnormality of visual evoked potentials, Colo... |
ORPHA:827 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Abnormality of visual evoked potentials, Cerebral visual impairment |
ORPHA:1389 |
Canavan Disease |
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Abnormality of visual evoked potentials, Blindness, Visual impairment |
ORPHA:141 |
Primary Non-Essential Cutis Verticis Gyrata |
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Abnormality of pattern visual evoked potentials, Reduced visual acuity |
ORPHA:357225 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Abnormal flash visual evoked potentials, Nyctalopia, Reduced visual acuity |
OMIM:618195 |
Oculocutaneous Albinism Type 1 |
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Photophobia, Abnormality of visual evoked potentials, Reduced visual acuity, Amblyopia |
ORPHA:352731 |
Mohr-Tranebjaerg Syndrome |
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Cerebral visual impairment, Visual loss, Central scotoma, Photophobia, Abnormality of visual evok... |
ORPHA:52368 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Abnormality of visual evoked potentials, Constriction of peripheral visual field, Progressive vis... |
ORPHA:1215 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Abnormality of visual evoked potentials, Central scotoma, Color vision defect, Slow decrease in v... |
OMIM:601152 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
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Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Ataxia With Vitamin E Deficiency |
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Abnormality of visual evoked potentials, Nyctalopia, Visual impairment |
ORPHA:96 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:1933 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
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Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
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Photophobia, Abnormality of visual evoked potentials, High myopia |
OMIM:614457 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Abnormality of visual evoked potentials, Myopia |
ORPHA:2971 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormality of visual evoked potentials, Amblyopia |
OMIM:617523 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... |
ORPHA:168491 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Abnormality of visual evoked potentials, Myopia, Hypermetropia, Cerebral visual impairment |
OMIM:616875 |
Friedreich Ataxia |
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Abnormality of visual evoked potentials, Reduced visual acuity, Visual impairment, Visual field d... |
OMIM:229300 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Abnormality of visual evoked potentials, Visual loss |
OMIM:256600 |
Late-Infantile/Juvenile Krabbe Disease |
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Abnormality of visual evoked potentials, Visual loss, Blindness, Visual impairment |
ORPHA:206443 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials |
OMIM:609304 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormality of visual evoked potentials, Myopia |
OMIM:601455 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
Oculocutaneous Albinism Type 1A |
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Photophobia, Visual impairment, Abnormality of visual evoked potentials |
ORPHA:79431 |
Pure Autonomic Failure |
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Abnormality of circulating catecholamine level |
ORPHA:441 |
Mepan Syndrome |
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Abnormality of visual evoked potentials, Reduced visual acuity |
ORPHA:508093 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Visual loss |
OMIM:125310 |
Cln5 Disease |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:228360 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment |
ORPHA:480898 |
Pelizaeus-Merzbacher Disease |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:702 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:485421 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Blindness |
ORPHA:35069 |
Infantile Krabbe Disease |
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Photophobia, Visual loss, Blindness, Abnormality of visual evoked potentials |
ORPHA:206436 |
White-Sutton Syndrome |
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Myopia, Mild myopia, Hypermetropia, Abnormality of visual evoked potentials, Visual impairment |
OMIM:616364 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:314389 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormality of visual evoked potentials, Reduced visual acuity |
ORPHA:309256 |
Micro Syndrome |
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Abnormality of visual evoked potentials, Cerebral visual impairment |
ORPHA:2510 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abnormality of visual evoked potentials, Reduced visual acuity |
ORPHA:309263 |
Ruvalcaba Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:3121 |
Hermansky-Pudlak Syndrome |
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Myopia, Amblyopia, Photophobia, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:79430 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormality of visual evoked potentials, Reduced visual acuity |
ORPHA:309271 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials |
OMIM:231550 |
Von Hippel-Lindau Disease |
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Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:512 |
Mogs-Cdg |
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Abnormality of visual evoked potentials |
ORPHA:79330 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment |
OMIM:203700 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:258 |
Cerebrotendinous Xanthomatosis |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:909 |
Cockayne Syndrome B |
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Abnormality of visual evoked potentials, Hypermetropia |
OMIM:133540 |
Cockayne Syndrome A |
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Abnormality of visual evoked potentials, Hypermetropia |
OMIM:216400 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:667 |