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Metadata
ID	DOID:0070398
Name	hypomyelinating leukodystrophy 15
Definition	A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. https://pubmed.ncbi.nlm.nih.gov/29576217/
Xrefs	MIM:617951
Synonyms	HLD15 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease