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ONTOLOGY REPORT - ANNOTATIONS


Term:NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
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Accession:DOID:9000463 term browser browse the term
Definition:An autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature.
Synonyms:exact_synonym: NEDSSWI
 primary_id: OMIM:618480
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NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhps deoxyhypusine synthase JBrowse link 19 26,184,665 26,188,755 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Language Development Disorders 88
        NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT 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
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  communication disorder 214
                    language disorder 138
                      Language Development Disorders 88
                        NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.