hypomyelinating leukodystrophy 20 (DOID:0112153)
Alliance: disease page
Synonyms: HLD20
Alt IDs: OMIM:619071
Definition: A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.