severe congenital encephalopathy due to MECP2 mutation (DOID:0111932)
Alliance: disease page
Synonyms: neonatal severe encephalopathy due to MECP2 mutations; severe neonatal-onset encephalopathy with microcephaly
Alt IDs: OMIM:300673, MESH:C566878, NCI:C132293, ORDO:209370, UMLS_CUI:C1968556
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.