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Summary Literature (0)
MIM:613402 - MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

Xenbase Genes: pnkp

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013254 - microcephaly, seizures, and developmental delay
MONDO:0100062 - developmental and epileptic encephalopathy

Disease Ontology (DO):
DOID:0050709 - early infantile epileptic encephalopathy
DOID:0080457 - microcephaly, seizures, and developmental delay
DOID:2481 - infantile epileptic encephalopathy