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| Term | megalencephalic leukoencephalopathy with subcortical cysts 2B | ID (Ontology) | DOID:0080317 (Human Disease) |
| 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. | ||
| Also Known As | "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__________________________________ leukodystrophy | |__megalencephalic leukoencephalopathy with subcortical cysts__| megalencephalic leukoencephalopathy with subcortical cysts 2B |
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autosomal dominant disease megalencephalic leukoencephalopathy with subcortical cysts |
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| MIM:613926 | |||