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GENATLAS PHENOTYPE
last update : 10-05-2014
Symbol AMCD3
Location 18p11.2
Name arthrogryposis, multiplex congenita, distal type 3
Other name(s) Gordon syndrome
Corresponding gene PIEZO2
Other symbol(s) DA3, DA2A
Main clinical features
  • camptodactyly, and minor foot deformity, bifid uvula, and/or and cleft palate
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Remark(s)