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ONTOLOGY REPORT - ANNOTATIONS


Term:Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities
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Accession:DOID:9009319 term browser browse the term
Definition:Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy. NEDLBA is caused by heterozygous mutation in the PPP2CA gene on chromosome 5q31. (OMIM)
Synonyms:exact_synonym: NEDLBA
 primary_id: OMIM:618354
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Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2ca protein phosphatase 2 catalytic subunit alpha JBrowse link 10 37,534,449 37,554,861 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 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 and Language Delay with or Without Structural Brain Abnormalities 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.