X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan]

Am J Med Genet. 1991 May 1;39(2):133-6. doi: 10.1002/ajmg.1320390204.


An apparently new X-linked syndrome is presented. It occurred in four male first cousins. The main manifestations of this syndrome are severe mental retardation, bilateral congenital hip luxation, and short stature. Three of the affected males showed a new glucose-6-phosphate dehydrogenase variant.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Genetic Variation
  • Glucosephosphate Dehydrogenase / genetics*
  • Hip Dislocation, Congenital / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Pedigree
  • Syndrome
  • X Chromosome*


  • Genetic Markers
  • Glucosephosphate Dehydrogenase