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GENATLAS PHENOTYPE
last update : 05-11-2019
Symbol MCPH27
Location 2q31.1
Name microcephaly 27
Corresponding gene METTL5
Main clinical features
  • severe intellectual disability (ID) or moderate to severe ID; delayed childhood milestones, self-mutilating behavior, and autism spectrum disorder
  • microcephaly, short stature, low body weight, wide nasal base, large nose with broad nasal tip, low-set and posteriorly rotated ears, and truncal ataxia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)