Term Name:	hypomyelinating leukodystrophy 17
Synonyms:	HLD17
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.
Ontology:	Human Disease [DOID:0070404]   ( DOID:0070404 )