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DOID:0111932 - severe congenital encephalopathy due to MECP2 mutation
Disease Ontology 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.
Synonyms: neonatal severe encephalopathy due to MECP2 mutations, severe neonatal-onset encephalopathy with microcephaly
Xenbase Genes
:
mecp2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
brain disease (is_a),
physical disorder (is_a)