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ONTOLOGY REPORT - ANNOTATIONS


Term:X-Linked Neurodevelopmental Disorder 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: MKMS;   Mullegama-Klein-Martinez syndrome;   NEDXCF;   STAG2-RELATED DISORDER
 primary_id: OMIM:301022
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X-Linked Neurodevelopmental Disorder 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
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            X-linked monogenic disease 856
              X-linked recessive disease 212
                X-Linked Neurodevelopmental Disorder 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.