SEC61A1 deficiency
Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.
MONDO:0003847
hereditary disease
is_a
SEC61A1 deficiency
exact
SPBC354.02c SPBC19G7.17