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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-12-2019
Symbol JMS
Location Xq13.3
Name Juberg-Marsidi syndrome
Other name(s) mental retardation-hypotonic facies syndrome
Corresponding gene ATRX
Main clinical features
  • severe mental retardation
  • growth retardation, deafness, microgenitalism
  • Genetic determination sex linked
    Function/system disorder metabolism/porphyrin and heme
    mental retardation
    Type disease
    Gene product
    Name transcriptional regulator XH2 (ATRX)
    Remark(s) no mutations in the ATRX gene have been reported in the original families, thus allelism with ATRX syndrome is not proven