_:vb50939410 . . "OMIM:616881"^^ . _:vb50939410 . . "disease_ontology"^^ . . "HLD13"@en . "hypomyelinating leukodystrophy 13"^^ . _:vb50939410 . . _:vb50939410 . _:vb50939410 . "DOID:0060795"^^ . "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."^^ .