| Metadata | |
|---|---|
| ID | DOID:0080316 |
| Name | megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Definition | A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. https://www.ncbi.nlm.nih.gov/pubmed/21419380 |
| Xrefs |
SNOMEDCT_US_2023_03_01:703536004 |
| Synonyms |
leukoencephalopathy with swelling and cysts [EXACT] Van Der Knaap disease [EXACT] |
| Parent Relationships |
is_a megalencephalic leukoencephalopathy with subcortical cysts |