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 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy