Term Name:	hypomyelinating leukodystrophy 21
Synonyms:	HLD21
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.
Ontology:	Human Disease [DOID:0070407]   ( DOID:0070407 )