Table 2.

Clinical and genetic data in the patients with biallelic CDH23 mutations

Case ID* 1	Age at the latestexamination	Genotypes* 2	Vision	Fundoscopy	Motor milestones* 3
1	25y11m	p.P240L / p.P240L	Normal	Not done	Normal
2	25y7m	p.P240L / p.P240L	Normal	Not done	Normal
3	25y2m	p.P240L / p.P240L	Normal	Not done	Normal
4	24y2m	p.P240L / p.P240L	Normal	Not done	Normal
5	17y3m	p.P240L / p.R2029W	Normal	Normal	Normal
6	14y1m	p.E2438K / p.N3044Tfs	Normal	Not done	Normal
7	13y3m	p.P240L / p.R2029W	Myopia	Normal	Normal
8	13y2m	p.D1626A / p.L2223Wfs	Normal	Not done	Normal
9	13y1m	p.P240L / p.P240L	Normal	Not done	Normal
10	11y8m	p.P240L / p.P240L	Normal	Not done	Normal
11	11y4m	p.E2438K / p.N3044Tfs	Normal	Not done	Normal
12	11y2m	p.D645G / p.E956K	Normal	Not done	Normal
13	9y7m	p.P240L / p.E956K	Myopia	Normal	Normal
14	9y2m	p.Q1716P / p.E2438K	Normal	Not done	Normal
15	8y5m	p.P240L / p.E956K	Normal	Not done	Normal
16	7y3m	p.P240L / p.E956K	Normal	Not done	Normal
17	7y0m	p.P240L / p.P240L	Normal	Not done	Normal
18	6y4m	p.P346S / p.Q1716P	Normal	Not done	Normal
20	5y9m	p.P240L / c.6712 + 1G > A	Normal	Not done	Normal
21	3y10m	p.P240L / c.6712 + 1G > A	Hyperopia	Normal	Normal

*¹Cases were shown in the order of their ages at the latest examination.

*²Genotypes written by bold word indicate truncating mutations.

*³Motor milestones: Head control < 4 months, Walking alone < 14 months.