DO_rare_slim has material basis in autosomal recessive disease hypomyelinating leukodystrophy hypomyelinating leukodystrophy 3 ICD10CM:E75.2 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. ORDO:280293 MIM:260600 disease_ontology DOID:0060790 HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation autosomal recessive inheritance