DISEASES

Disease-gene associations mined from literature

Human genes for adult-onset autosomal dominant demyelinating leukodystrophy

Adult-onset autosomal dominant demyelinating leukodystrophy [DOID:0060785]

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.

Synonyms:  adult-onset autosomal dominant demyelinating leukodystrophy,  adultonset autosomal dominant demyelinating leukodystrophy,  adult-onset autosomal dominant demyelinating leukodystrophies,  DOID:0060785,  ADLD ...