hypomyelinating leukodystrophy 26 (DOID:0070403)
Alliance: disease page
Synonyms: HLD26
Alt IDs: OMIM:620269
Definition: A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21.