loading...| Preferred Name |
Leigh syndrome |
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| Synonyms |
LS |
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| Definitions |
(LS) - An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. |
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| ID |
http://identifiers.org/omim/256000 |
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| altLabel |
LS |
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| definition |
(LS) - An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. |
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| id |
OMIM:256000 |
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| notation |
OMIM:256000 |
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| prefLabel |
Leigh syndrome |
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| subClassOf |