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GENATLAS PHENOTYPE
last update : 10-10-2017
Symbol RENS1
Location Xp11.23
Name mental retardation X-linked, Renpenning syndrome 1
Other name(s)
  • Sutherland-Haan syndrome
  • Corresponding gene PQBP1
    Other symbol(s) MRRP, MRXS8, MRXS3, MRX55, SHS
    Main clinical features
  • with microcephaly, lean body habitus, short stature, striking facial appearance with long narrow faces, upward slant of the eyes, malar hypoplasia, prognathism, high-arched palate and nasal speech, small testes and midline defects as anal atresia or imperforate anus, clefting of palate and/or uvula, iris coloboma and tetralogy of Fallot
  • microcephaly, leanness and mild short stature, upper back progressive muscular atrophy, metacarpophalangeal ankylosis of the thumb and velar dysfunction (PMID: 20950397))
  • also mental retardation, syndromic, with spastic diplegia, microcephaly, lean body habitus, short stature, scoliosis, striking facial appearance with long narrow faces, upward slant of the eyes, malar hypoplasia, prognathism, high-arched palate and nasal speech
  • Genetic determination sex linked
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Gene product
    Name polyglutamine binding protein 1
    Remark(s)