Search Ontology:
Human Disease
severe congenital encephalopathy due to MECP2 mutation
- Term ID
- DOID:0111932
- Synonyms
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- 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
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- MESH:C566878
- MIM:300673
- NCI:C132293
- ORDO:209370
- SNOMEDCT_US_2023_03_01:711487002
- UMLS_CUI:C1968556
- Ontology
- Human Disease ( DOID:0111932 )
- is a type of
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Genes Involved
Zebrafish Models