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ONTOLOGY REPORT - ANNOTATIONS


Term:Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
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Accession:DOID:9005979 term browser browse the term
Definition:Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. (OMIM)
Synonyms:exact_synonym: GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA
 primary_id: OMIM:618412
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Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        Developmental Disabilities 379
          Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            disease of mental health 5617
              Neurodevelopmental Disorders 4162
                Developmental Disabilities 379
                  Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.