Ataxia With Vitamin E Deficiency |
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Ataxia, Dysmetria, Mental deterioration, Abnormality of visual evoked potentials, Dysdiadochokine... |
ORPHA:96 |
Obesity Due To Sim1 Deficiency |
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Glucose intolerance, Hyperinsulinemia, Memory impairment, Cognitive impairment |
ORPHA:369873 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Cachexia, Abnormality of visual evoked potentials, Short stature |
ORPHA:1389 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Downslanted palpebral fissures, Abnormality of visual evoked potentials, Long eyelashes, Ptosis |
OMIM:617523 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Cachexia, Short stature, Abnormality of visual evoked potentials, Ptosis |
ORPHA:1933 |
Cln5 Disease |
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Ataxia, Inability to walk, Dysmetria, Mental deterioration, Abnormality of visual evoked potentia... |
ORPHA:228360 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Abnormality of visual evoked potentials, Memory impairment, Subcortical dementia, Gait disturbanc... |
OMIM:125310 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Epicanthus, Abnormality of visual evoked potentials, Failure to thrive |
ORPHA:2971 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Ataxia, Inability to walk, Abnormal amplitude of flash visual evoked potentials, Mental deteriora... |
ORPHA:168491 |
Oculocutaneous Albinism Type 1 |
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White eyebrow, White eyelashes, Abnormality of visual evoked potentials |
ORPHA:352731 |
Ruvalcaba Syndrome |
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Abnormality of visual evoked potentials, Downslanted palpebral fissures, Delayed puberty, Intraut... |
ORPHA:3121 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials |
OMIM:609304 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Bilateral ptosis, Abnormality of visual evoked potentials |
ORPHA:1215 |
Xq12-Q13.3 Duplication Syndrome |
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Epicanthus, Abnormality of visual evoked potentials, Short stature |
ORPHA:314389 |
Friedreich Ataxia |
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Ataxia, Limb ataxia, Abnormality of visual evoked potentials, Gait ataxia, Diabetes mellitus |
OMIM:229300 |
Pelizaeus-Merzbacher Disease |
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Cachexia, Abnormality of visual evoked potentials, Failure to thrive in infancy, Short stature |
ORPHA:702 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
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Growth delay, Abnormality of visual evoked potentials |
OMIM:614457 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormality of visual evoked potentials |
OMIM:601455 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormality of visual evoked potentials |
ORPHA:320401 |
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 |
White-Sutton Syndrome |
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Failure to thrive, Short stature, Upslanted palpebral fissure, Abnormality of visual evoked poten... |
OMIM:616364 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Abnormality of visual evoked potentials |
OMIM:601152 |
Micro Syndrome |
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Abnormality of visual evoked potentials, Intrauterine growth retardation, Delayed puberty, Short ... |
ORPHA:2510 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Abnormality of visual evoked potentials |
OMIM:256600 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Abnormality of visual evoked potentials |
OMIM:616875 |
Infantile Krabbe Disease |
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Failure to thrive, Abnormality of visual evoked potentials, Cachexia |
ORPHA:206436 |
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 |
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 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Growth delay, Abnormality of visual evoked potentials |
ORPHA:485421 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Failure to thrive, Abnormality of visual evoked potentials |
OMIM:203700 |
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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Weight loss, Long eyelashes, Abnormality of visual evoked potentials |
ORPHA:79430 |
Oculocutaneous Albinism Type 1A |
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Abnormality of visual evoked potentials |
ORPHA:79431 |
Cockayne Syndrome B |
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Failure to thrive, Severe short stature, Severe failure to thrive, Small for gestational age, Abn... |
OMIM:133540 |
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 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials, Decreased body weight |
ORPHA:258 |
Cockayne Syndrome A |
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Failure to thrive, Short stature, Severe postnatal growth retardation, Abnormality of visual evok... |
OMIM:216400 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormality of visual evoked potentials |
ORPHA:309271 |
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 |