Human genes for megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 [DOID:0080316]
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 MLC1 on chromosome 22q13.
Synonyms: megalencephalic leukoencephalopathy with subcortical cysts 1, DOID:0080316, leukoencephalopathy with swelling and cysts, Van Der Knaap disease, leukoencephalopathy with swelling and cystses ...