OBO ID: DOID:0112153 |
Term Name: | hypomyelinating leukodystrophy 20 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112153 ) |
OTHER hypomyelinating leukodystrophy 20 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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