DISEASES

Disease-gene associations mined from literature

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