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ONTOLOGY REPORT - ANNOTATIONS
Term:NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
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Accession:DOID:9009122 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. (OMIM)
Synonyms:exact_synonym: NEDMEBA
 primary_id: OMIM:617862
For additional species annotation, visit the Alliance of Genome Resources.

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NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trappc6b trafficking protein particle complex 6B JBrowse link 6 80,142,126 80,153,216 RGD:8554872
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY 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
                NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY 1
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