| Metadata | |
|---|---|
| ID | DOID:0060785 |
| Name | adult-onset autosomal dominant demyelinating leukodystrophy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/16951681, https://www.ncbi.nlm.nih.gov/pubmed/19151023 |
| Xrefs |
SNOMEDCT_US_2023_03_01:448054001 |
| Subsets |
DO_rare_slim |
| Synonyms |
ADLD [EXACT] adult-onset autosomal dominant leukodystrophy [EXACT] autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease [EXACT] |
| Parent Relationships |
is_a leukodystrophy |