_:vb50939396 . . "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42."^^ . _:vb50939396 . _:vb50939396 . . _:vb50939396 . _:vb50939396 . "disease_ontology"^^ . . "hypomyelinating leukodystrophy 10"^^ . "DOID:0060788"^^ . "OMIM:616420"^^ . "HLD10"@en . .