Disease association ontology term - MONDO:0013254 - microcephaly, seizures, and developmental delay
Term summary
- ID
- MONDO:0013254
- Name
- microcephaly, seizures, and developmental delay
- Ontology or CV name
- Disease association
- 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.
