Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070399 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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