OBO ID: DOID:0080317 |
Term Name: | megalencephalic leukoencephalopathy with subcortical cysts 2B | Search Ontology: | |
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Definition: | A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. https://www.ncbi.nlm.nih.gov/pubmed/20517947 | ||
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Ontology: | Human Disease ( DOID:0080317 ) |
OTHER megalencephalic leukoencephalopathy with subcortical cysts 2B PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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