Table 1.

Summary of demographics and mutations in ALG11-CDG patients

	Rind et al. 2010 (pt A)	Rind et al. 2010 (pt B)	Thiel et al. 2012 (pt A)	Thiel et al. 2012 (pt B)	Thiel et al. 2012 (pt C)	Regal et al. 2014 (pt A)	Regal et al. 2014 (pt B)	Teneiji et al. (2017)	Teneiji et al. (2017)	Pereira et al. (2017)	Present report (pt 1)	Present report (pt 2)
Sex	F	M	F	F	M	M	M	F	F	F	F	M
Age at onset	1 week	6 weeks	12 months	2 months	12 months	birth	3 months	4 months	4 months	5 months	3–4 months	3–4 months
Age	Died at 2 years	NA	7 years at publication	4.5years at publication	8.5 years at publication	Died at 3 years	Died at 4 moths	7 years at publication	4 years at publication	4 years at publication	26 moths	14 years
Ethnic origin	Turkish	Turkish	French-Canadian	Caucasian	Turkish	Belgian	Ducth	Canadian?	Canadian?	French?	Caucasian	Mexican
Other features	Oscillation of body temperature	NA	Cerebral atrophy and abnormal white matter	Oscillation of body temperature	Atactic movement disorder	Hypokinesia, burst suppression pattern on EEG, atrophy of white matter and cortex, subcortical heterotopia, retarded myelination	Burst suppression pattern on EEF, cerebral atrophy	Hypomyelination, brain atrophy		Pericerebral collection or enlarged subarachnoids spaces
Mutations	Homozygous c.257T>C, p.L86S	Homozygous c.257T>C, p.L86S	compound heterozygous c.623_624del/frame shift; c.836A>C, p.Y279S	Compound heterozygous c.1142T>C, P.L381S; c.1192G>A, p.E398K	Homozygous c.953A>C, p.Q318P	Compound heterozygous c.479G>T, p.G160V; c.45–2A>T	Compound heterozygous c.479G>T, p.G160V; c.36dupG	Homozygous c.1241T>A, p.I414N	Compound heterozygous c.1123_1126delAACA, p.N375FfsX6; c.986_988delAGA, p.K329del	NA	Compund heterozygous c.935A>G, p.E312G; c.1223T>G, p.M408R	Homozygous mutation c.127T>C p.L46P and whole gene deletion