|OBO ID: DOID:0080316|
|Term Name:||megalencephalic leukoencephalopathy with subcortical cysts 1||Search Ontology:|
|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 MLC1 on chromosome 22q13. https://www.ncbi.nlm.nih.gov/pubmed/21419380|
|Ontology:||Human Disease (DOID:0080316)|
|is a type of:||
OTHER megalencephalic leukoencephalopathy with subcortical cysts 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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