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Human Disease

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
Ontology
Human Disease   ( DOID:0111932 )
Relationships
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Genes Involved
Zebrafish Models