_:vb50939399 . _:vb50939399 "url:https://www.ncbi.nlm.nih.gov/pubmed/18571143"^^ . _:vb50939399 . _:vb50939399 . _:vb50939399 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33."^^ . _:vb50939399 . _:vb50939399 .