Term Name:	hypomyelinating leukodystrophy 13
Synonyms:	HLD13
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.
Ontology:	Human Disease [DOID:0060795]   ( DOID:0060795 )