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Term:Coffin-Siris Syndrome 8
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Accession:DOID:9002142 term browser browse the term
Definition:Coffin-Siris syndrome-8 (CSS8) is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermillion, and upturned nose. CSS8 is caused by heterozygous mutation in the SMARCC2 gene on chromosome 12q13. (OMIM)
Synonyms:exact_synonym: CSS8
 primary_id: OMIM: 618362
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Coffin-Siris Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 JBrowse link 7 2,875,898 2,905,463 RGD:7240710

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Term Annotations click to browse term
  disease 15625
    syndrome 5162
      Coffin-Siris syndrome 11
        Coffin-Siris Syndrome 8 1
Path 2
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  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            disease of mental health 5520
              developmental disorder of mental health 2712
                specific developmental disorder 1884
                  intellectual disability 1706
                    non-syndromic intellectual disability 182
                      autosomal dominant non-syndromic intellectual disability 105
                        Coffin-Siris syndrome 11
                          Coffin-Siris Syndrome 8 1
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