Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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
	dermatology
Type	disease

Remark(s)