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GENATLAS PHENOTYPE
last update : 28-11-2012
Symbol MLS2
Location Xq21.1
Name microphthalmia linear skin defects 2
Corresponding gene COX7B
Main clinical features
  • X-linked dominant disorder characterized by linear skin defects--which are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas--in affected females and in utero lethality for males
  • poor growth, microcephaly, agenesis of the corpus callosum, and other CNS abnormalities, multiple linear skin defects on the face and neck, an asymmetric face with limited eyelid closure, a facial dysmorphy, heart defects, mental retardation
  • Genetic determination sex linked
    Function/system disorder dermatology
    neurology
    Type disease
    Remark(s)