| Term Name: | severe congenital encephalopathy due to MECP2 mutation |
|---|---|
| Synonyms: | neonatal severe encephalopathy due to MECP2 mutations, severe neonatal-onset encephalopathy with microcephaly |
| Definition: | A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. |
| Ontology: | Human Disease [DOID:0111932] ( DOID:0111932 ) |