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developmental and epileptic encephalopathy, 2
Disease Summary
Associated Targets (2)
Tchem
1
Tbio
1
Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.
Uniprot Description A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, EIEE2 and Rett syndrome are considered two distinct entities.
Disease Ontology Description An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.
Mondo Term and Equivalent IDs
MONDO:0010396: developmental and epileptic encephalopathy, 2
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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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080467
MESH:C564064
OMIM:300672
Orphanet:505652
UMLS:C1839333
MONDO:0010396
High level summary of knowledge for a disease, including descriptions and datasource references.