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GENATLAS PHENOTYPE
last update : 11-07-2012
Symbol CMCS
Location 1p13.3
Name Chudley-McCullough syndrome
Corresponding gene GPSM2
Other symbol(s) CMS
Main clinical features
  • frontal polymicrogyria and gray matter heterotopia are uniformly present, whereas cerebellar dysplasia, ventriculomegaly, and arachnoid cysts are nearly invariant, frequent posterior agenesis of the corpus callosum and hearing loss
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    ear
    Type disease
    Remark(s)