| Metadata | |
|---|---|
| ID | DOID:0111932 |
| Name | severe congenital encephalopathy due to MECP2 mutation |
| 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. https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy, https://pubmed.ncbi.nlm.nih.gov/12615169/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:711487002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
neonatal severe encephalopathy due to MECP2 mutations [EXACT] severe neonatal-onset encephalopathy with microcephaly [EXACT] |
| Parent Relationships |
is_a brain disease is_a X-linked recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance disease has basis in some Abnormality of prenatal development or birth |