megalencephalic leukoencephalopathy with subcortical cysts 2B

Term ID

DOID:0080317

Synonyms

• megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation

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

References

• OMIM:613926

Ontology

Human Disease   ( DOID:0080317 )