trichohepatoenteric syndrome

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trichohepatoenteric syndrome2016-11-28T07:12:37+00:00

trichohepatoenteric syndrome 2


A rare hereditary (OMIM:614602) condition characterised by intractable diarrhoea with facial dysmorphia, intrauterine growth retardation, immunodeficiency with reduced immunoglobulins and woolly hair.

Molecular pathology Defects of SKIV2L, which encodes a helicase with ATPase activity, cause trichohepatoenteric syndrome 2.

Synonyms Phenotypic diarrhoea, syndromic diarrhoea, THE syndrome 


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