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DOID:0080457 - microcephaly, seizures, and developmental delay
Disease Ontology 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.
Synonyms: developmental and epileptic encephalopathy 10, early infantile epileptic encephalopathy 10,
Xenbase Genes
:
pnkp
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)