OBO ID: DOID:0080315
Term Name: megalencephalic leukoencephalopathy with subcortical cysts Search Ontology:
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)
OTHER megalencephalic leukoencephalopathy with subcortical cysts PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

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