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GENATLAS PHENOTYPE
last update : 10-10-2015
Symbol BCYM4
Location 10q23.31
Name brachyolmia 4
Corresponding gene PAPSS2
Main clinical features
  • skeletal dysplasias that primarily affects the spine
  • short-trunk, short stature that became conspicuous during childhood with normal intelligence and facies
  • radiographic features included rectangular vertebral bodies with irregular endplates and narrow intervertebral discs, precocious calcification of rib cartilages, short femoral neck, and mildly shortened metacarpals
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Remark(s)