microcephaly, seizures, and developmental delay
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.
MONDO:0001149
microcephaly
is_a
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
EIEE10
related
MCSZ
related
early infantile epileptic encephalopathy-10
related
microcephaly - seizures - developmental delay
related
microcephaly, seizures, and developmental delay
exact
SPAC23C11.04c