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GENATLAS PHENOTYPE
last update : 31/08/2006
Symbol PFM1
Location 11p11.2
Name parietal foramina permagna 1
Other name(s)
  • parietal foramina, symmetric
  • catlin marks
  • cranium bifidum occultum, hereditary
  • Corresponding gene ALX4
    Other symbol(s) FBMR, FPP
    Main clinical features skull vault defect, with enlarged parietal foramina and cranium bifidum
    Genetic determination autosomal dominant
    Related entries EXT2, DEL11PP
    Function/system disorder osteo-articular
    Type MCA/MR
    Gene product
    Name aristaless-like homeobox 4
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function disruption of protein stability, DNA binding or nuclear localization
    Remark(s) component of Potocki-Shaffer syndrome