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GENATLAS PHENOTYPE
last update : 21-06-2016
Symbol MRFDC
Location 18q22.3
Name mental retardation, facial dysmorphism, camptodactyly
Corresponding gene ZNF407
Main clinical features
  • cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptosis and epicanthic folds, synophrys, midface hypoplasia, downturned mouth corners, thin upper vermillion border and prominent ears
  • bilateral 5th finger camptodactyly, bilateral short 4th metatarsal bones, and limited knee mobility bilaterally
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    osteo-articular
    Type disease
    Remark(s)