Disease

microcephaly, seizures, and developmental delay

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.
Synonyms
  • developmental and epileptic encephalopathy 10
  • early infantile epileptic encephalopathy 10
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models