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GENATLAS PHENOTYPE
last update : 29/09/2005
Symbol LHDMR
Location 6q16.2-q23.1
Name limb-heart defect with mental retardation
Other symbol(s) DEL6Q21
Main clinical features
  • short stature, microcephaly, split hand, sparse hair, congenital heart defect and developmental delay
  • Genetic determination chromosomal
    Function/system disorder cardiovascular
    osteo-articular
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion    
    Remark(s)
  • 6q16.1-q22.32 (~34Mb) in a patient with facial dysmorphism, ectrodactyly and tetralogy of Fallot studied using CGH array
  • critical band could be 6q21 with GJA1 as a candidate gene for heart defects