OBO ID: DOID:0080316 |
Term Name: | megalencephalic leukoencephalopathy with subcortical cysts 1 | Search Ontology: | |
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Definition: | A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. https://www.ncbi.nlm.nih.gov/pubmed/21419380 | ||
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Ontology: | Human Disease ( DOID:0080316 ) |
OTHER megalencephalic leukoencephalopathy with subcortical cysts 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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