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Term:macrocephaly-autism syndrome
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Accession:DOID:0060867 term browser browse the term
Definition:An autosomal dominant disease 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;   macrocephaly/autism syndrome
 primary_id: MESH:C565342
 alt_id: OMIM:605309;   RDO:0014007
 xref: ORDO:210548
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macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:7240710

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  disease 14759
    syndrome 4210
      macrocephaly-autism syndrome 1
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                pervasive developmental disorder 1696
                  autism spectrum disorder 1691
                    autistic disorder 1570
                      macrocephaly-autism syndrome 1
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