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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-02-2015
Symbol DLCRM
Location 3p13
Name distal limb contractures with mental retardation
Corresponding gene FOXP1 , EIF4E3
Main clinical features
  • multiple contractures, feeding problems, developmental delay, and intellectual disability
  • facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis
  • Genetic determination chromosomal
    Function/system disorder mental retardation
    Type MCA/MR
  • large interstitial deletions of the 3p including EIF4E3, the first three exons of the FOXP1 gene, and an intronic enhancer of FOXP1 named hs1149 (PMID: 25258245))