Term Name: | megalencephalic leukoencephalopathy with subcortical cysts |
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Synonyms: | megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome, vacuolating megalencephalic leukoencephalopathy with subcortical cysts |
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. |
Ontology: | Human Disease [DOID:0080315] ( DOID:0080315 ) |