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GENATLAS PHENOTYPE
last update : 22/04/2008
Symbol MRRP
Location 4p16-p15
Name mental retardation with retinitis pigmentosa
Corresponding gene CC2D2A
Main clinical features
  • retinitis pigmentosa, astigmatism, nystagmus, mental retardation mild to moderate, no dysmorphic features
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease