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GENATLAS PHENOTYPE
last update : 05-06-2013
Symbol GAPOS
Location 2p13.3
Name GAPO syndrome ( growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy)
Corresponding gene ANTXR1
Main clinical features
  • frontal bossing, high forehead, midfacial hypoplasia and wide-open anterior fontanel suggesting skeletal dysplasia.with bone age retarded
  • psychomotor retardation, alopecia, optic atrophy, impacted upper and lower teeth,
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    mental retardation
    Type disease
    Remark(s)