ZFIN Human Disease: severe congenital encephalopathy due to MECP2 mutation

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 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 )

Relationships

is a type of:	brain disease physical disorder X-linked recessive disease brain disease physical disorder X-linked recessive disease Show first 5 Terms

OTHER severe congenital encephalopathy due to MECP2 mutation PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MECP2	mecp2	Encephalopathy, neonatal severe	300673

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None