Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 26-04-2023
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
    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