Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B
Disease ID: disease_node_19921
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| Dbxref | MIM:613926 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080315 |
| Data Source | DOID |
| Synonyms | megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation |
| Doid Label | megalencephalic leukoencephalopathy with subcortical cysts 2B |
| Doid 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 the HEPACAM gene on chromosome 11q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19921 |
| Doid Id | DOID_0080317 |
| Label | Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)