Term Name: | microcephaly, seizures, and developmental delay |
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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 ) |