trichohepatoenteric syndrome type 2(redirected from THES2)
trichohepatoenteric syndrome type 2A syndrome (OMIM:614602) characterised by intrauterine growth retardation; severe diarrhoea in infancy requiring total parenteral nutrition; facial dysmorphism; immunodeficiency; and hair defects (e.g., woolly hair, trichorrhexis nodosa).
Poor, due to hepatic involvement.
Defects of SKIV2L, which encodes a DEAD box protein and helicase with ATPase activity, cause trichohepatoenteric syndrome type 2.
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