You are using an outdated browser. Please upgrade your browser to improve your experience.

megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency.
Disease Ontology Description 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 HEPACAM on chromosome 11q24.
Mondo Term and Equivalent IDs
MONDO:0013491:  megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
UMLS:C3151356: