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GENATLAS PHENOTYPE
last update : 25-09-2010
Symbol GIHS
Location Xp11.23
Name Golabi-Ito-Hall syndrome
Corresponding gene PQBP1
Main clinical features
  • X-linked mental retardation, microcephaly, postnatal growth deficiency, and other anomalies including atrial septal defect
  • Genetic determination sex linked
    Function/system disorder cardiovascular
    mental retardation
    mental retardation
    neurology
    Type MCA/MR
    Remark(s) . WW domain mutation implicated in GIH syndrome results in a chemically significant substitution by changing the conserved tyrosine at position 65 (Y65C) within the aromatic core of the domain to cysteine (PMID: 20410308))