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References OMIM Gene GeneReviews HGMD HGNC
last update : 10-10-2017
Symbol PRIS
Location Xp11-q21
HGNC id 9471
Name Prieto syndrome
Other name(s) mental retardation, X-linked, syndromic 2
Other symbol(s) MRXS2, PRS
Main clinical features
  • mental retardation, with facial dysmorphism, ear malformations, abnormal growth of teeth, dimpled skin at the lower back and cerebral atrophy
  • also clinodactyly, patella luxation, and subcortical cerebral atrophy
  • Genetic determination sex linked
    Function/system disorder congenital malformation
    mental retardation
    Type disease