hypomyelinating leukodystrophy 21 (DOID:0070407)
Alliance: disease page
Synonyms: HLD21
Alt IDs: OMIM:619310
Definition: A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13.