has material basis in germline mutation in PNKP microcephaly microcephaly, seizures, and developmental delay https://github.com/monarch-initiative/mondo/issues/1753 https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay https://www.malacards.org/card/microcephaly_seizures_and_developmental_delay UMLS:C3150667 MEDGEN:462017 Orphanet:228418 DOID:0080457 OMIM:613402 MCSZ EIEE10 early infantile epileptic encephalopathy-10 microcephaly, seizures, and developmental delay microcephaly - seizures - 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. MONDO:0013254 GARD:0010933 genetic developmental and epileptic encephalopathy