OBO ID: DOID:0080296 |
Term Name: | hypomyelinating leukodystrophy 14 | Search Ontology: | |
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Definition: | A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. https://pubmed.ncbi.nlm.nih.gov/28931644/ | ||
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Ontology: | Human Disease ( DOID:0080296 ) |
OTHER hypomyelinating leukodystrophy 14 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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