Visualize Submit Comment

Metadata
ID	DOID:0070399
Name	hypomyelinating leukodystrophy 18
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. https://pubmed.ncbi.nlm.nih.gov/30620337/
Xrefs	MIM:618404
Synonyms	HLD18 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance