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| Term | megalencephalic leukoencephalopathy with subcortical cysts | ID (Ontology) | DOID:0080315 (Human Disease) |
| 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. | ||
| Also Known As | "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome" ; "vacuolating megalencephalic leukoencephalopathy with subcortical cysts" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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cerebral degeneration |__leukodystrophy |__megalencephalic leukoencephalopathy with subcortical cysts |__megalencephalic leukoencephalopathy with subcortical cysts 1 |__megalencephalic leukoencephalopathy with subcortical cysts 2A |__megalencephalic leukoencephalopathy with subcortical cysts 2B |
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| Is a | leukodystrophy | ||
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GARD:3445 MESH:C536141 MIM:PS604004 ORDO:2478 SNOMEDCT_US_2023_03_01:703536004 UMLS_CUI:C1858854 |
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