hypomyelinating leukodystrophy 13 (DOID:0060795)
Alliance: disease page
Synonyms: HLD13
Alt IDs: OMIM:616881
Definition: 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.