Term Name: megalencephalic leukoencephalopathy with subcortical cysts
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 )

Relationships
is a type of: leukodystrophy
has subtype: megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic leukoencephalopathy with subcortical cysts 2A megalencephalic leukoencephalopathy with subcortical cysts 2B