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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 4/09/2006
Symbol PSDY3
Location 22q13.3
Name polysyndactyly 3
Other name(s) synpolydactyly 2
Corresponding gene FBLN1
Other symbol(s) SPD2
Main clinical features
  • complex type, bilateral, preaxial polydactyly, synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name fibulin 1