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severe neonatal-onset encephalopathy with microcephaly
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description 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.
Uniprot Description A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.
Mondo Term and Equivalent IDs
MONDO:0010397: severe neonatal-onset encephalopathy with microcephaly
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C566878
NCIT:C132293
OMIM:300673
Orphanet:209370
UMLS:C1968556
MONDO:0010397
High level summary of knowledge for a disease, including descriptions and datasource references.