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ONTOLOGY REPORT - ANNOTATIONS


Term:HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
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Accession:DOID:9003925 term browser browse the term
Definition:A neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. (OMIM)
Synonyms:exact_synonym: EBF3-RELATED DISORDER;   HADDS
 primary_id: OMIM:617330;   RDO:9001439
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HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
RGD:11554173
RGD:7240710

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  disease 14759
    syndrome 4210
      HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
Path 2
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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
              Neurodevelopmental Disorders 2745
                Developmental Disabilities 342
                  HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
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