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Human Disease
hypomyelinating leukodystrophy 20
- Term ID
- DOID:0112153
- Synonyms
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- 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 )
- is a type of
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