OBO ID: DOID:0111932
Term Name: severe congenital encephalopathy due to MECP2 mutation Search Ontology:
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 MECP2 on chromosome Xq28. (2)
References:
Ontology: Human Disease   (DOID:0111932)
OTHER severe congenital encephalopathy due to MECP2 mutation PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MECP2 Encephalopathy, neonatal severe 300673
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None