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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
Orphanet:369894: 
UMLS:C3809624: