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Term:macrocephaly-autism syndrome
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Accession:DOID:0060867 term browser browse the term
Definition:A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: autism spectrum disorder (ASD) with macrocephaly;   autism spectrum disorder and macrocephaly;   macrocephaly-intellectual disability-autism syndrome
 primary_id: MESH:C565342
 alt_id: OMIM:605309
 xref: ORDO:210548
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macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:7240710

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Path 1
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  disease 16017
    syndrome 6141
      macrocephaly-autism syndrome 2
Path 2
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  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        central nervous system disease 8856
          brain disease 8144
            disease of mental health 5768
              developmental disorder of mental health 2918
                pervasive developmental disorder 1734
                  autism spectrum disorder 1728
                    autistic disorder 1570
                      macrocephaly-autism syndrome 2
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