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ONTOLOGY REPORT - ANNOTATIONS


Term:NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY
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Accession:DOID:9006238 term browser browse the term
Definition:An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth. Affected individuals develop seizures in the first year of life and achieve almost no psychomotor progress, resulting in feeding difficulties and an inability to walk or speak. Other features include hypotonia, peripheral spasticity with contractures, cortical visual impairment, and dysmorphic features, including microcephaly.
Synonyms:exact_synonym: NEDESBA
 primary_id: OMIM:618741
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NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trappc4 trafficking protein particle complex 4 JBrowse link 8 48,723,755 48,727,182 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Neurodevelopmental Disorders 4294
        NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        peripheral nervous system disease 2359
          neuropathy 2174
            neuromuscular disease 1706
              muscular disease 1120
                Muscle Spasticity 45
                  NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.