Hypomyelinating leukodystrophy-28 (HLD28) is an autosomal recessive disorder characterized by developmental delay and nystagmus in infancy, followed by significant learning disabilities and progressive motor deterioration within the first decade (Elpidorou et al., 2022).
For a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. [from
OMIM]