_:vb50939404 . "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21."^^ . _:vb50939404 . "OMIM:616494"^^ . . "disease_ontology"^^ . "ICD10CM:G11.1"^^ . "hypomyelinating leukodystrophy 11"^^ . . "DOID:0060792"^^ . "HLD11"@en . _:vb50939404 . _:vb50939404 . . _:vb50939404 . .