|OBO ID: DOID:0112153|
|Term Name:||hypomyelinating leukodystrophy 20||Search Ontology:|
|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/|
|Ontology:||Human Disease (DOID:0112153)|
|is a type of:||
OTHER hypomyelinating leukodystrophy 20 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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