Table 1.

Biochemical, demographic and genetic data for patients with biallelic pathogenic variants leading to CDG.

Patient	CDG type (biochemical classification)	Affected gene	Protein change due to pathogenic variants	Zygosity	Sex	Age (years)
A	Mixed type I/type II	PGM1	p.R422W/p.Q530X	Heterozygous	F	22
B	Type II	TMEM165	N/Aa	Homozygous	M	11
C	Type I	PMM2	p.C241S/p.R141H	Heterozygous	F	16
D	Mixed type I/type II	PGM1	p.R515Q	Homozygous	M	4
E	Type II	ATP6V0A2	p.Y252Ilefs*15	Homozygous	F	10
F	Mixed type I/type II	PGM1	p.D263Y/p.Y517X	Heterozygous	M	15
G	Type I	PMM2	p.I120C/p.G228C	Heterozygous	F	7
H	Mixed type I/type II	PGM1	p.S338R	Homozygous	M	3

^ac.792+182G>A deep intronic, homozygous mutation.