Term Name: | hypomyelinating leukodystrophy 11 |
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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 ) |