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Term:Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
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Accession:DOID:9005524 term browser browse the term
Definition:The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 (ATRX) gene on chromosome Xq13 and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. (OMIM)
Synonyms:exact_synonym: Carpenter-Waziri syndrome;   Chudley Lowry Hoar syndrome;   Chudley mental retardation syndrome;   Chudley syndrome 1;   Chudley-Lowry Syndrome;   Holmes-Gang syndrome;   MRXHF1;   SFM1;   SFMS;   Smith-Fineman-Myers syndrome 1;   X-Linked Mental Retardation-Hypotonic Facies Syndrome;   X-linked hypogonadism gynecomastia mental retardation;   XLMR-HYPOTONIC FACIES SYNDROME
 primary_id: MESH:C537457;   RDO:0003301
 alt_id: OMIM:309580
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Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14924
    Pathological Conditions, Signs and Symptoms 7743
      Pathologic Processes 4927
        Growth Disorders 244
          Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            disease of mental health 4324
              developmental disorder of mental health 2591
                specific developmental disorder 1759
                  intellectual disability 1589
                    syndromic intellectual disability 666
                      Mental Retardation, X-Linked 652
                        syndromic X-linked intellectual disability 583
                          Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.