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GENATLAS PHENOTYPE
last update : 07-09-2016
Symbol GOSHS
Location 10q22.1
Name Goldberg-Shprintzen megacolon syndrome
Corresponding gene KIFBP
Main clinical features
  • microcephaly, diffuse polymicrogyria, mental retardation, facial dysmorphism, and Hirschsprung disease
  • characterized by central and enteric nervous system defects (PMID: 20621975))
    • Genetic determination autosomal recessive
    Function/system disorder digestive tract/gastrointestinal
    mental retardation
    neurology
    Type MCA/MR
    Gene product
    Name KIAA1279 gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein  
    Remark(s) mutations in KIAA1279 are associated with both central and enteric nervous system defects (PMID: 20621975))