Microcephaly, seizures, and developmental delay

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, EIEE10, MCSZ, early infantile epileptic encephalopathy-10, epileptic encephalopathy, early infantile, 10, microcephaly - seizures - developmental delay

17 clinical trials for this condition and its sub-types, 0 tagged with Microcephaly, seizures, and developmental delay itself.