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GENATLAS PHENOTYPE
last update : 10-11-2015
Symbol MOPD4
Location 3p21.2
Name microcephalic osteodysplastic primordial dwarfism type 4
Other name(s) short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Corresponding gene POC1A
Other symbol(s) SOFT
Main clinical features
  • disproportionate-short-stature syndrome
  • profound global developmental delay with microcephalic dwarfism, with onychodysplasia, facial dysmorphism, and hypotrichosis
  • osteopenia, strikingly hypoplastic epiphyses most notably in the proximal humerus and femur
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    osteo-articular
    Type disease
    Remark(s) . missense mutation in POC1A is associated with arrested growth of bone and ectodermal tissues and results in a severe form of dwarfism (PMID: 22840363))