Severe neonatal-onset encephalopathy with microcephaly
Severe neonatal-onset encephalopathy with microcephaly
Definition
An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.
Also known as encephalopathy, neonatal severe, X-linked recessive, severe congenital encephalopathy due to MECP2 mutation, severe neonatal encephalopathy due to MECP2 mutations — per MONDO
Also identified as
- DOID 0111932 per MONDO
- MESH C566878 per MONDO
- NCIT C132293 per MONDO
- OMIM 300673 per MONDO
- Orphanet 209370 per MONDO
- UMLS C1968556 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Brain | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Brain | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |