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microcephaly, seizures, and developmental delay (DOID:0080457)
Alliance: disease page
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.

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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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12/10/2024
MGI 6.24 		The Jackson Laboratory