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Up to: Genetic developmental and epileptic encephalopathy · Microcephaly
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.
This condition has no sub-types.