| Metadata | |
|---|---|
| ID | DOID:0080315 |
| Name | 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:703536004 |
| Subsets |
DO_rare_slim |
| Synonyms |
megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome [EXACT] vacuolating megalencephalic leukoencephalopathy with subcortical cysts [EXACT] |
| Parent Relationships |
is_a leukodystrophy |