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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 7/09/2006
Symbol RLAD
Location 17p12-p11.2
Name Roussy-Levy hereditary areflexic dystasia
Other name(s) Roussy-Levy syndrome
Corresponding gene PMP22
Main clinical features
  • early onset, foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, absent tendon reflexes
    • Genetic determination
    Function/system disorder
    Type disease
    Gene product
    Name peripheral myelin protein 22