trichohepatoenteric syndrome

(redirected from phenotypic diarrhoea)

trichohepatoenteric syndrome

A rare autosonmal recessive condition (OMIM:222470) characterised by intractable diarrhoea with facial dysmorphism, intrauterine growth retardation, immunodeficiency with reduced immunoglobulins, and woolly hair.

Molecular pathology
Caused by a mutation of SKIV2L on chromosome 6p21, which encodes a helicase with ATPase activity.