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GENATLAS PHENOTYPE
last update : 05-12-2012
Symbol BDMR
Location 2q37.3
Name brachydactyly-mental retardation syndrome
Other name(s) Albright hereditary osteodystrophy-like syndrome 3
Corresponding gene HDAC4
Other symbol(s) AHO3
Main clinical features
  • short stature, stocky build, mental retardation, brachymetaphalangia, but no abnormalities in parathyroid hormone or calcium metabolism
    • Genetic determination autosomal dominant
    chromosomal
    Related entries DEL2Q37
    Function/system disorder osteo-articular
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   haploinsufficiency  
      deletion haploinsufficiency see DEL2Q37
    Remark(s) haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome (PMID: 20691407))