Ataxia With Vitamin E Deficiency |
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Diabetes mellitus, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Mental deterioration,... |
ORPHA:96 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Abnormality of visual evoked potentials, Short stature, Cachexia |
ORPHA:1389 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Abnormality of visual evoked potentials, Short stature, Cachexia, Ptosis |
ORPHA:1933 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Downslanted palpebral fissures, Abnormality of visual evoked potentials, Long eyelashes, Ptosis |
OMIM:617523 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Abnormality of visual evoked potentials, Epicanthus, Failure to thrive |
ORPHA:2971 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Subcortical dementia, Dementia, Gait disturbance, Abnormality of visual evoked potentials, Memory... |
OMIM:125310 |
Oculocutaneous Albinism Type 1 |
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Abnormality of visual evoked potentials, White eyelashes, White eyebrow |
ORPHA:352731 |
Ruvalcaba Syndrome |
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Delayed puberty, Abnormality of visual evoked potentials, Intrauterine growth retardation, Downsl... |
ORPHA:3121 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Abnormality of visual evoked potentials, Bilateral ptosis |
ORPHA:1215 |
Xq12-Q13.3 Duplication Syndrome |
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Abnormality of visual evoked potentials, Epicanthus, Short stature |
ORPHA:314389 |
Pelizaeus-Merzbacher Disease |
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Abnormality of visual evoked potentials, Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Friedreich Ataxia |
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Diabetes mellitus, Ataxia, Limb ataxia, Gait ataxia, Abnormality of visual evoked potentials |
OMIM:229300 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials |
OMIM:609304 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormality of visual evoked potentials |
ORPHA:320401 |
Mepan Syndrome |
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Abnormality of visual evoked potentials, Failure to thrive |
ORPHA:508093 |
Canavan Disease |
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Abnormality of visual evoked potentials |
ORPHA:141 |
Stargardt Disease |
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Abnormality of visual evoked potentials |
ORPHA:827 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
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Growth delay, Abnormality of visual evoked potentials |
OMIM:614457 |
White-Sutton Syndrome |
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Short stature, Obesity, Upslanted palpebral fissure, Abnormality of visual evoked potentials, Int... |
OMIM:616364 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Abnormality of visual evoked potentials |
OMIM:256600 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormality of visual evoked potentials |
OMIM:601455 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials |
ORPHA:168491 |
Micro Syndrome |
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Abnormality of visual evoked potentials, Intrauterine growth retardation, Short stature, Delayed ... |
ORPHA:2510 |
Cln5 Disease |
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Abnormality of visual evoked potentials |
ORPHA:228360 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Abnormality of visual evoked potentials |
OMIM:601152 |
Infantile Krabbe Disease |
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Abnormality of visual evoked potentials, Failure to thrive, Cachexia |
ORPHA:206436 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Abnormality of visual evoked potentials |
OMIM:616875 |
Mohr-Tranebjaerg Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:52368 |
Late-Infantile/Juvenile Krabbe Disease |
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Abnormality of visual evoked potentials |
ORPHA:206443 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Growth delay, Abnormality of visual evoked potentials |
ORPHA:485421 |
Infantile Neuroaxonal Dystrophy |
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Abnormality of visual evoked potentials |
ORPHA:35069 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Abnormality of visual evoked potentials, Short stature |
OMIM:231550 |
Mogs-Cdg |
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Abnormality of visual evoked potentials, Long eyelashes, Short palpebral fissure |
ORPHA:79330 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:480898 |
Hermansky-Pudlak Syndrome |
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Abnormality of visual evoked potentials, Long eyelashes, Weight loss |
ORPHA:79430 |
Oculocutaneous Albinism Type 1A |
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Abnormality of visual evoked potentials |
ORPHA:79431 |
Cockayne Syndrome B |
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Severe short stature, Small for gestational age, Postnatal growth retardation, Severe failure to ... |
OMIM:133540 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials, Decreased body weight |
ORPHA:258 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormality of visual evoked potentials |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abnormality of visual evoked potentials |
ORPHA:309263 |
Cockayne Syndrome A |
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Short stature, Severe postnatal growth retardation, Abnormality of visual evoked potentials, Intr... |
OMIM:216400 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormality of visual evoked potentials |
ORPHA:309271 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Abnormality of visual evoked potentials, Failure to thrive |
OMIM:203700 |
Cerebrotendinous Xanthomatosis |
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Abnormality of visual evoked potentials, Abnormal eyelid morphology |
ORPHA:909 |
Metachromatic Leukodystrophy |
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Abnormality of visual evoked potentials |
ORPHA:512 |
Autosomal Recessive Malignant Osteopetrosis |
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Growth delay, Abnormality of visual evoked potentials |
ORPHA:667 |