ID Sex NBAS Mutations Protein Levels Fibroblasts Clinical Features cDNA (NM_015909.3), Protein (NP_056993.2) NBAS p31 AO Age Last Crisis Number of ALF Age Last Visit Other Clinical Findings F1:II.1 F c.[558_560del];[686dup], p.[Ile187del];[Ser230Glnfs∗4] 21% 27% 21 14 9/12 years 2 18 years none reported F2:II.1 F c.[2708T>G];[2708T>G], p.[Leu903Arg];[Leu903Arg] 22% 30% 7 21 1/12 years 7 22 years acute renal failure, epilepsy F3:II.1 F c.[603_605del];[3164T>C], p.[Leu202del];[Leu1055Pro] 20% 38% 10 11 7/12 years 5 18 years celiac disease F4:II.3 F c.[2708T>G];[2827G>T], p.[Leu903Arg];[Glu943∗] 26% 38% 8 ND ND 37 years none reported F5:II.2 M c.[3010C>T];[3164T>C], p.[Arg1004∗];[Leu1055Pro]; 18% 33% 7 9 10/12 years 10 14 years cardiomyopathy F6:II.1 M c.1533_1545del];[2951T>G], p.[Ile512Thrfs∗4];[Ile984Ser] ND ND 18 3 11/12 years 5 3 years none reported F7:II.1 F c.[1042C>T];[2203−3C>G], p.[Pro348Ser];[?] 32% ND 11 6 7/12 years 4 9 years none reported F7:II.2 F c.[1042C>T];[2203−3C>G], p.[Pro348Ser];[?] 36% ND 6 8/12 years 6 8/12 years 1 11 years erythema nodosum, Crohn’s disease F8:II.2 M c.[1187G>A];[2330C>A], p.[Trp396∗];[Pro777His] ND ND 21 3 years 1 8 years none reported F9:II.2 F c.[118−2A>G];[2524G>T], p.[?(;)Val842Phe] ND ND 18 2 2/12 years 3 4 years none reported F10:II.1 F c.[686dup];[3164T>C], p.[Ser230Glnfs∗4];[Leu1055Pro] ND ND 4 5 10/12 years 5 18 years ND