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GENATLAS PHENOTYPE
last update : 07-04-2010
Symbol ITCHD
Location 20q11
Name ITCH deficiency
Corresponding gene ITCH
Main clinical features
  • organomegaly, failure to thrive, developmental delay, dysmorphic features, and autoimmune inflammatory cell infiltration of the lungs, liver, and gut
  • developmental delay, hepatosplenomegaly, diarrhea, and chronic lung disease
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/gastrointestinal
    mental retardation
    respiratory
    Type MCA/MR
    Remark(s)