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DO Term : megalencephalic leukoencephalopathy with subcortical cysts [DOID:0080315] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:PS604004,
  • GARD:3445,
  • PS604004,
  • vacuolating megalencephalic leukoencephalopathy with subcortical cysts,
  • MESH:C536141,
  • UMLS_CUI:C1858854,
  • SNOMEDCT_US_2023_03_01:703536004,
  • megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome,
  • ORDO:2478
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Ontology Term --> Direct children

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