Term:syndromic X-linked intellectual disability Lubs type
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Accession:DOID:0060799 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: Lubs X-linked mental retardation syndrome;   MECP2 duplication syndrome;   MENTAL RETARDATION, X-LINKED, SYNDROMIC, LUBS TYPE;   MRXSL;   Mental Retardation, X-Linked, With Recurrent Respiratory Infections;   Mental retardation, X-linked, Lubs type;   X-linked intellectual disability-hypotonia-recurrent infections syndrome;   XLMR syndrome, Lubs type;   trisomy Xq28
 primary_id: MESH:C537723
 alt_id: OMIM:300260;   RDO:0003613
 xref: ORDO:85281
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syndromic X-linked intellectual disability Lubs type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:7240710

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Term Annotations click to browse term
  disease 14875
    syndrome 4220
      syndromic X-linked intellectual disability Lubs type 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          syndromic X-linked intellectual disability Lubs type 1
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