Table 2. Identified known and candidate genes for CVI per patient.

Patient	Dominant de novo	Autosomal recessive
1	DLG4
2		NGLY1a
3
4
5
6	SLC35A2
7	AHDC1a
8	GABRB2, ARHGEF10L
9	AMOT
10	UHMK1
11	SLC25A16	GRIN1, DCAF6
12		PGAP1a
13	NR2F1a
14
15
16
17	SOX5, KCTD19
18
19	GRIN2B, ZFP30
20	ATP6V1A, UFSP2
21
22	RERE, SLC1A1b
23	NR2F1a	ACP6
24	KCNQ3
25

^aIdentified known CVI-associated gene.

^bProbably mosaic mutation.