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GENATLAS PHENOTYPE
last update : 25-08-2017
Symbol OFD16
Location 17p13.1
Name Orofaciodigital syndrome XVI
Corresponding gene TMEM107
Main clinical features
  • postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, developmental delay, and muscle hypotonia associated with motor delay
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/liver and annex
    mental retardation
    osteo-articular
    Type disease
    Remark(s)