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GENATLAS PHENOTYPE
last update : 17-06-2014
Symbol CLBMS3
Location 4q31.3
Name colobomatous microphthalmia syndromic3
Corresponding gene MAD21L2
Main clinical features
  • colobomatous microphthalmia, resulting from failure of optic fissure closure during embryogenesis, or bilateral anophthalmia with macrocephaly, moderate intellectual disability, and generalized skeletal dysplasia
  • Genetic determination autosomal dominant
    Function/system disorder eye
    osteo-articular
    mental retardation
    Type disease
    Remark(s)