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Namespace Prefixes

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owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

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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.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/23224214 url:https://www.ncbi.nlm.nih.gov/pubmed/20118933