OBO ID: DOID:0060785 |
Term Name: | adult-onset autosomal dominant demyelinating leukodystrophy | Search Ontology: | |
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Definition: | A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. (2) | ||
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Ontology: | Human Disease ( DOID:0060785 ) |
OTHER adult-onset autosomal dominant demyelinating leukodystrophy PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS (1)
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