trichohepatoenteric syndrome type 1(redirected from THES1)
trichohepatoenteric syndrome type 1A syndrome (OMIM:222470) characterised by intrauterine growth retardation; severe diarrhoea in infancy requiring total parenteral nutrition; facial dysmorphia; immunodeficiency; and hair defects (e.g., woolly hair, trichorrhexis nodosa).
Poor, due to hepatic involvement.
Caused by defects of TTC37, which encodes a tetratricopeptide repeat protein belonging to the SKI complex that may be involved in exosome-mediated RNA decay.
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