OBO ID: DOID:0080317
Term Name: megalencephalic leukoencephalopathy with subcortical cysts 2B Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080317 )
OTHER megalencephalic leukoencephalopathy with subcortical cysts 2B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development 613926
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None