microcephaly, seizures, and developmental delay (DOID:0080457)
Alliance: disease page
Synonyms: developmental and epileptic encephalopathy 10; early infantile epileptic encephalopathy 10
Alt IDs: OMIM:613402
Definition: A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.