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Term:Seckel syndrome 4
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Accession:DOID:0070010 term browser browse the term
Definition:A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. (DO)
Synonyms:exact_synonym: SCKL4
 primary_id: OMIM:613676
 alt_id: RDO:0009938
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Seckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:7240710
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      Seckel syndrome 11
        Seckel syndrome 4 2
Path 2
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  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                complex cortical dysplasia with other brain malformations 492
                  Malformations of Cortical Development, Group I 347
                    microcephaly 218
                      Seckel syndrome 4 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.