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developmental and epileptic encephalopathy, 18
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging.
Disease Ontology Description An early infantile epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.
Mondo Term and Equivalent IDs
MONDO:0014201: developmental and epileptic encephalopathy, 18
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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 UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080413
OMIM:615476
Orphanet:369894
UMLS:C3809624
MONDO:0014201
High level summary of knowledge for a disease, including descriptions and datasource references.