label: Gastrointestinal Defects and Immunodeficiency Syndrome
label_lc: gastrointestinal defects and immunodeficiency syndrome
description: An autosomal recessive condition caused by mutation(s) in the TTC7A gene encoding tetratricopeptide repeat protein 7A. It is characterized by multiple intestinal atresia, multi-organ impairment and associated with T- and B-cell dysfunction.