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ONTOLOGY REPORT - ANNOTATIONS


Term:Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements
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Accession:DOID:9000239 term browser browse the term
Definition:Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate. NEDISHM is caused by homozygous or compound heterozygous mutation in the ZNF142 gene on chromosome 2q35. (OMIM)
Synonyms:exact_synonym: NEDISHM
 primary_id: OMIM:618425
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Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp142 zinc finger protein 142 JBrowse link 9 81,844,138 81,868,086 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15469
    Developmental Diseases 8823
      Neurodevelopmental Disorders 4095
        Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
Path 2
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      nervous system disease 10221
        central nervous system disease 8352
          brain disease 7703
            disease of mental health 5554
              developmental disorder of mental health 2728
                specific developmental disorder 1894
                  communication disorder 214
                    language disorder 138
                      speech disorder 50
                        Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.