Term Name: hypomyelinating leukodystrophy 26
Synonyms: HLD26
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.
Ontology: Human Disease [DOID:0070403]   ( DOID:0070403 )

Relationships
is a type of: autosomal recessive disease hypomyelinating leukodystrophy