hypomyelinating leukodystrophy 18

Term ID

DOID:0070399

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. https://pubmed.ncbi.nlm.nih.gov/30620337/

References

• OMIM:618404

Ontology

Human Disease   ( DOID:0070399 )