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megalencephalic leukoencephalopathy with subcortical cysts 2B
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease megalencephalic leukoencephalopathy with subcortical cysts
External Links
- Disease Ontology
- DOID:0080317
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000957 | Cafe-au-lait spot |
| HP:0001397 | Hepatic steatosis |
