Human genes for microcephaly, seizures, and developmental delay
Microcephaly, seizures, and developmental delay [DOID:0080457]
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: microcephaly, seizures, and developmental delay, and developmental delay microcephaly, seizures, DOID:0080457, microcephaly seizures and developmental delay, and developmental delay microcephaly seizures ...