Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 24-05-2013
Symbol AOS4
Location 3p14.1
Name Adams-Oliver syndrome 4
Corresponding gene EOGT
Main clinical features
  • combination of aplasia cutis congenita (ACC) and terminal transverse limb defects, with variable involvement of the brain, eyes, and cardiovascular systems
  • parietal scalp defects, distal transverse limb defects, speech and fine motor delays
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    osteo-articular
    multisystem/generalized
    Type disease
    Remark(s)