1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0080316 | megalencephalic leukoencephalopathy with subcortical cysts 1 | 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. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:1443 | cerebral degeneration | A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. |