| Term Name: | microcephaly, seizures, and developmental delay |
|---|---|
| Synonyms: | developmental and epileptic encephalopathy 10, early infantile epileptic encephalopathy 10 |
| 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. |
| Ontology: | Human Disease [DOID:0080457] ( DOID:0080457 ) |