severe congenital encephalopathy due to MECP2 mutation

Term ID

DOID:0111932

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. (2)

References

• MESH:C566878
• NCI:C132293
• OMIM:300673
• ORDO:209370
• SNOMEDCT_US_2023_03_01:711487002
• UMLS_CUI:C1968556

Ontology

Human Disease   ( DOID:0111932 )