_:vb50939411 . _:vb50939411 . _:vb50939411 . _:vb50939411 . _:vb50939411 "url:https://www.ncbi.nlm.nih.gov/pubmed/26545878"^^ . _:vb50939411 . _:vb50939411 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14."^^ .