Human genes for hypomyelinating leukodystrophy 11
Hypomyelinating leukodystrophy 11 [DOID:0060792]
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
Synonyms: hypomyelinating leukodystrophy 11, DOID:0060792, HLD11