| Metadata | |
|---|---|
| ID | DOID:0080317 |
| Name | megalencephalic leukoencephalopathy with subcortical cysts 2B |
| Definition | A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. https://www.ncbi.nlm.nih.gov/pubmed/20517947 |
| Xrefs | |
| Synonyms |
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation [EXACT] |
| Parent Relationships |
is_a megalencephalic leukoencephalopathy with subcortical cysts |