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microcephaly, seizures, and developmental delay (DOID:0080457)
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Synonyms: 'developmental and epileptic encephalopathy 10'; 'early infantile epileptic encephalopathy 10'
Alt IDs: OMIM:613402
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory