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GENATLAS PHENOTYPE
last update : 30-04-2013
Symbol SMDA2
Location 8q22.2
Name spondylometaphyseal dysplasia anauxetic type 2
Corresponding gene POP1
Main clinical features
  • disproportionate short stature with mental retardation
  • distinct facial appearance with hypotelorism, prognathism, and hypodontia,short trunk with lumbar hyperlordosis, and kyphoscoliosis
  • radiographs showed midface hypoplasia with a steep skull base and enlarged J-shaped sella
  • Genetic determination not applicable
    Function/system disorder osteo-articular
    mental retardation
    Type disease
    Remark(s)
  • mutations impair the integrity and activity of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains and they impair cell proliferation (PMID: 21455487))