Term Name: | severe congenital encephalopathy due to MECP2 mutation |
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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 ) |