severe congenital encephalopathy due to MECP2 mutation
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. (DO)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly