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ONTOLOGY REPORT - ANNOTATIONS


Term:Snijders Blok-Campeau Syndrome
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Accession:DOID:9001540 term browser browse the term
Definition:Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable. SNIBCPS is caused by heterozygous mutation in the CHD3 gene on chromosome 17p13. (OMIM)
Synonyms:exact_synonym: CHD3-RELATED DISORDER;   SNIBCPS
 primary_id: OMIM:618205
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Snijders Blok-Campeau Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Language Development Disorders 62
        Snijders Blok-Campeau Syndrome 1
Path 2
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  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  communication disorder 186
                    language disorder 110
                      Language Development Disorders 62
                        Snijders Blok-Campeau Syndrome 1
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