This report describes general characteristics of the group of diseases classified as hypomyelinating leukodystrophy (HLD). HLD is a genetically heterogeneous disorder with multiple genes and mapped loci. A comprehensive list of HLD subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these are listed in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Jan. 2022 by FlyBase; FBrf0222196]
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders characterized by substantial and permanent deficits in CNS myelin deposition. Most patients with severe hypomyelination present in infancy or early childhood and develop severe neurological deficits; clinical presentation can also be mild with onset of symptoms in adolescence or adulthood (Wolf et al., 2021; pubmed:33324001).
