Term Name:	hypomyelinating leukodystrophy 18
Synonyms:	HLD18
Definition:	A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42.
Ontology:	Human Disease [DOID:0070399]   ( DOID:0070399 )