OBO ID: DOID:0080315 |
Term Name: | megalencephalic leukoencephalopathy with subcortical cysts | Search Ontology: | |
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Definition: | A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts | ||
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Ontology: | Human Disease ( DOID:0080315 ) |
OTHER megalencephalic leukoencephalopathy with subcortical cysts PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (2)
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