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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-04-2012
Symbol THES
Location 6p21.3
Name trichohepatoenteric syndrome
Corresponding gene SKIV2L
Main clinical features
  • intractable diarrhea, facial dysmorphism, intrauterine growth retardation, immunodeficiency, and hair abnormalities
  • intrauterine growth retardation, woolly hair, facial dysmorphism (dysmorphism with large forehead, hypertelorism, and broad nasal root, and trichorrhexis nodosa), intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression
  • duodenal biopsy showed total villous atrophy
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/gastrointestinal
    Type disease