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Metadata
ID	DOID:0070404
Name	hypomyelinating leukodystrophy 17
Definition	A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. https://pubmed.ncbi.nlm.nih.gov/35140751/, https://pubmed.ncbi.nlm.nih.gov/29215095/
Xrefs	MIM:618006
Synonyms	HLD17 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance