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Metadata
ID	DOID:0112153
Name	hypomyelinating leukodystrophy 20
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. https://pubmed.ncbi.nlm.nih.gov/32128616/
Xrefs	OMIM:619071
Synonyms	HLD20 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease