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ONTOLOGY REPORT - ANNOTATIONS


Term:Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities
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Accession:DOID:9009335 term browser browse the term
Definition:X-linked neurodevelopmental disorder with craniofacial abnormalities (NEDXCF) is characterized by global developmental delay with impaired intellectual development and poor speech. Ear abnormalities and hearing loss are common, as are dysmorphic facial features such as microcephaly and cleft palate. Other features may include short stature, scoliosis, vertebral abnormalities, and mild limb abnormalities such as fifth finger clinodactyly. Clinical manifestations depend on the type of mutation: female carriers with missense mutations may be unaffected, and conversely, males with nonsense or truncating mutations may have a severe phenotype with early death. NEDXCF is caused by heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. (OMIM)
Synonyms:exact_synonym: NEDXCF
 primary_id: OMIM:301022
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Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stag2 stromal antigen 2 JBrowse link X 128,493,603 128,624,418 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Neurodevelopmental Disorders 2775
        Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          monogenic disease 3227
            X-linked monogenic disease 839
              X-linked recessive disease 170
                Neurodevelopmental Disorder, X-Linked, with Craniofacial 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.