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ONTOLOGY REPORT - ANNOTATIONS


Term:microcephaly, seizures, and developmental delay
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Accession:DOID:0080457 term browser browse the term
Definition:An early infantile 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. (DO)
Synonyms:exact_synonym: EIEE10;   MCSZ;   early infantile epileptic encephalopathy 10
 primary_id: OMIM:613402
 alt_id: RDO:0009833
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microcephaly, seizures, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        Developmental Disabilities 360
          microcephaly, seizures, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          eye and adnexa disease 2236
            eye disease 2236
              visual pathway disease 644
                visual cortex disease 642
                  visual epilepsy 642
                    childhood onset epileptic encephalopathy 185
                      Infantile or Early Childhood Epileptic Encephalopathy 181
                        early infantile epileptic encephalopathy 178
                          microcephaly, seizures, and developmental delay 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.