megalencephalic leukoencephalopathy with subcortical cysts 1

Term ID

DOID:0080316

Synonyms

• leukoencephalopathy with swelling and cysts
• vacuolating megalencephalic leukoencephalopathy with subcortical cysts
• Van Der Knaap disease

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

References

• MESH:C536141
• OMIM:604004
• SNOMEDCT_US_2023_03_01:703536004
• UMLS_CUI:C1858854

Ontology

Human Disease   ( DOID:0080316 )