Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.

Uniprot Description A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia.

Disease Ontology Description An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.