Microcephaly, seizures, and developmental delay
Microcephaly, seizures, and developmental delay
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.
Also known as microcephaly, seizures, and developmental delay — per MONDO