Search Ontology:
Human Disease

megalencephalic leukoencephalopathy with subcortical cysts

Term ID
DOID:0080315
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. https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts
References
Ontology
Human Disease   ( DOID:0080315 )
Relationships
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has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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