Term Name: | hypomyelinating leukodystrophy 20 |
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Synonyms: | HLD20 |
Definition: | A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. |
Ontology: | Human Disease [DOID:0112153] ( DOID:0112153 ) |