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Human Disease

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
Ontology
Human Disease   ( DOID:0080317 )
Relationships
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Genes Involved
Zebrafish Models