Term Name: hypomyelinating leukodystrophy 11
Synonyms: HLD11
Definition: 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.
Ontology: Human Disease [DOID:0060792]   ( DOID:0060792 )

Relationships
is a type of: autosomal recessive disease hypomyelinating leukodystrophy