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severe congenital encephalopathy due to MECP2 mutation
Summary
- Synonym
-
- 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.
- Super Class
- X-linked recessive disease brain disease physical disorder
External Links
- Disease Ontology
- DOID:0111932
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
