Search Ontology:
Human Disease

hypomyelinating leukodystrophy 20

Term ID
DOID:0112153
Synonyms
  • HLD20
Definition
A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/32128616/
References
Ontology
Human Disease   ( DOID:0112153 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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