Search Ontology:
Human Disease
microcephaly, seizures, and developmental delay
- Term ID
- DOID:0080457
- Synonyms
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- developmental and epileptic encephalopathy 10
- early infantile epileptic encephalopathy 10
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0080457 )
- is a type of
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