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Term:Miles-Carpenter syndrome
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Accession:DOID:0060815 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO)
Synonyms:exact_synonym: Contractures of feet, muscle atrophy, and oculomotor apraxia;   MCS;   MRXS4;   Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches;   Mental retardation, X-linked, syndromic 4;   Miles-Carpenter X-linked mental retardation syndrome;   WRWF;   Wieacker Wolff syndrome;   X-linked intellectual disability, Miles-Carpenter type;   oculomotor apraxia, with congenital contractures and muscle atrophy
 primary_id: MESH:C536703;   MESH:C537472
 alt_id: OMIM:314580
 xref: ORDO:85283
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Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Miles-Carpenter syndrome 1
Path 2
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  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            disease of mental health 5547
              developmental disorder of mental health 2725
                specific developmental disorder 1893
                  intellectual disability 1718
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 658
                        syndromic X-linked intellectual disability 584
                          Miles-Carpenter syndrome 1
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